Is DPP6 p.Lys571Gln (c.1711A>C) pathogenic?

DPP6 p.Lys571Gln (c.1711A>C) is classified Conflicting classifications of pathogenicity in DPP6 (ClinVar, Conflicting submitters, 7 submitters; last evaluated 2025-07-01). AlphaMissense: likely benign (0.0702); Rare (popmax 0.627%, mid).

How common is DPP6 p.Lys571Gln (c.1711A>C) in the general population?

DPP6 p.Lys571Gln (c.1711A>C) is rare (popmax 0.627%, mid) (gnomAD).

What do computational predictors say about DPP6 p.Lys571Gln (c.1711A>C)?

AlphaMissense predicts likely benign (score 0.0702) — an in-silico prediction, not a clinical call.

DPP6 p.Lys571Gln

c.1711A>C · rs140460765 · VCV218491

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 7 submitters

AlphaMissense

likely benign

0.0702 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.627%, mid)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0702	likely benign
REVEL	0.068	moderately benign-leaning
SaProt	LLR -7.27	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 6.7	GERP 1.5, phastCons 1
Regional constraint	o/e 0.83	unconstrained · MANE · 840 kb · p 1.6e-08 · regional, not allelic
Overall
CADD	16.35	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.627% Middle Eastern · 38/6,062 alleles

Filtering AF 0.469% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.415%

Overall 0.0903% 1,457/1,613,868 alleles · rare

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.627%	160
Admixed American	0.332%	302
African / African-American	0.309%	323
Remaining individualsnot grpmax-eligible	0.264%	379
Ashkenazi Jewishnot grpmax-eligible	0.196%	510
European (non-Finnish)	0.0643%	1,554
Finnishnot grpmax-eligible	0.00626%	15,982
South Asian	0.0022%	45,539

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: DPP6
Protein: p.Lys571Gln
Coding: c.1711A>C
MANE Select: NM_130797
dbSNP: rs140460765
Type: single nucleotide variant
Location: chr7:154853824 (GRCh38)
Gene constraint: LOEUF 0.751 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 87.41 · 8 PDB

Full DPP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DPP6 p.Gly65Cys Uncertain significance ★★ ⚠ same type
DPP6 p.Gly65Val Uncertain significance ★★ ⚠ same type
DPP6 p.Lys223Arg Uncertain significance ★★ ⚠ same type
DPP6 p.Pro229Thr Uncertain significance ★★ ⚠ same type
DPP6 c.1261-188G>A Benign ★★ same type
DPP6 c.1261-48G>A Benign ★★ same type
DPP6 c.1299+147A>G Benign ★★ same type
DPP6 c.1299+200A>G Benign ★★ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/dpp6-p-lys571gln (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown