Is BTBD17 p.Pro324= (c.972G>T) pathogenic?

BTBD17 p.Pro324= (c.972G>T) is classified Likely benign in BTBD17 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-05-01). Absent from gnomAD v4.1.

How common is BTBD17 p.Pro324= (c.972G>T) in the general population?

BTBD17 p.Pro324= (c.972G>T) is absent from gnomAD v4.1 (gnomAD).

BTBD17 p.Pro324=

c.972G>T · VCV4084363

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,526,310)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -3.9	GERP -2.8
Overall
CADD	6.882	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,526,310). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: BTBD17
Protein: p.Pro324=
Coding: c.972G>T
MANE Select: NM_001080466
Type: single nucleotide variant
Location: chr17:74357122 (GRCh38)
Gene constraint: LOEUF 1.489 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 85.20

Full BTBD17 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

BTBD17 p.Ala113Thr Uncertain significance ★ ⚠ same type
BTBD17 p.Ala160Val Uncertain significance ★ ⚠ same type
BTBD17 p.Ala248Thr Uncertain significance ★ ⚠ same type
BTBD17 p.Ala254Val Uncertain significance ★ ⚠ same type
BTBD17 p.Ala301Val Uncertain significance ★ ⚠ same type
BTBD17 p.Ala310Thr Uncertain significance ★ ⚠ same type
BTBD17 p.Ala350Glu Uncertain significance ★ ⚠ same type
BTBD17 p.Ala350Ser Uncertain significance ★ ⚠ 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/btbd17-p-pro324 (accessed [today's date]).

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