Is DCAF8 p.Ser47Arg (c.141T>A) pathogenic?

DCAF8 p.Ser47Arg (c.141T>A) is classified Uncertain significance in DCAF8 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-04-11). AlphaMissense: likely pathogenic (0.9715); Absent from gnomAD v4.1.

How common is DCAF8 p.Ser47Arg (c.141T>A) in the general population?

DCAF8 p.Ser47Arg (c.141T>A) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about DCAF8 p.Ser47Arg (c.141T>A)?

AlphaMissense predicts likely pathogenic (score 0.9715) — an in-silico prediction, not a clinical call.

DCAF8 p.Ser47Arg

c.141T>A · rs1372136970 · VCV1691063

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.9715 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/2 damaging

AlphaMissense, SaProt · REVEL no call

Computational evidence

Protein change
AlphaMissense	0.9715	likely pathogenic
REVEL	0.318	indeterminate
SaProt	LLR -8.24	tolerated
⇒ AlphaMissense calls this damaging; SaProt does not; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 6.4	GERP 1.6, phastCons 1
Regional constraint	o/e 0.86	unconstrained · MANE · 4,009 bp · p 0.059 · regional, not allelic
Overall
CADD	23.8	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

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: DCAF8
Protein: p.Ser47Arg
Coding: c.141T>A
MANE Select: NM_015726
dbSNP: rs1372136970
Type: single nucleotide variant
Location: chr1:160240279 (GRCh38)
Gene constraint: LOEUF 0.466 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 74.60 · 2 PDB
Residue 47: the 'disordered' region

Full DCAF8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DCAF8 p.Arg117Cys Uncertain significance ★★ ⚠ same type
DCAF8 p.Arg122Trp Uncertain significance ★★ ⚠ same type
DCAF8 p.Asn343Ser Uncertain significance ★★ ⚠ same type
DCAF8 p.Ser419Asn Uncertain significance ★★ ⚠ same type
DCAF8 p.Ser576Pro Uncertain significance ★★ ⚠ same type
DCAF8 p.Arg204= Benign/Likely benign ★★ same type
DCAF8 p.Arg263= Benign ★★ same type
DCAF8 p.Asp214= Likely 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/dcaf8-p-ser47arg (accessed [today's date]).

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