DCAF13 p.Ala70=
c.210C>A · rs142367101 · VCV731721
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.42%, afr)
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 -0.14 | GERP -0.32 |
| Overall | ||
| CADD | 6.269 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.42%
African / African-American · 1,063/75,078 alleles
Filtering AF
1.35%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.32%
Overall
0.0774%
1,249/1,613,580 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.42% | 71 |
| Admixed American | 0.172% | 583 |
| Middle Eastern | 0.132% | 758 |
| Remaining individualsnot grpmax-eligible | 0.107% | 933 |
| South Asian | 0.00329% | 30,361 |
| European (non-Finnish) | 0.000424% | 235,997 |
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
- DCAF13
- Protein
- p.Ala70=
- Coding
- c.210C>A
- MANE Select
- NM_015420
- dbSNP
- rs142367101
- Type
- single nucleotide variant
- Location
- chr8:103415200 (GRCh38)
- Gene constraint
- LOEUF 0.848 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.84 · 3 PDB
- Residue 70
- a UniProt-annotated variant site (in); a β-strand
Similar variants
- DCAF13 p.His327Arg Uncertain significance ★★ ⚠ same type
- DCAF13 p.Phe381Cys Uncertain significance ★★ ⚠ same type
- DCAF13 p.Ala109Gly Benign ★★ same type
- DCAF13 c.-20C>T Uncertain significance ★ same type
- DCAF13 c.-30T>C Uncertain significance ★ same type
- DCAF13 c.-33A>G Uncertain significance ★ same type
- DCAF13 c.-38C>A Uncertain significance ★ same type
- DCAF13 c.-8C>G 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/dcaf13-p-ala70 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown