DEAF1 p.Ala24=
c.72T>C · rs911752105 · VCV1608413
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0403%, eas)
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 0.13 | GERP -1.2, phastCons 0.44 |
| Overall | ||
| CADD | 12.23 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0403%
East Asian · 6/14,870 alleles
Filtering AF
0.0175%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0119%
Overall
0.00355%
36/1,013,194 alleles · ultra-rare
exomes 30/868,962 · genomes 6/144,232 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0403% | 2,478 |
| Admixed American | 0.0159% | 6,281 |
| Remaining individualsnot grpmax-eligible | 0.00615% | 16,271 |
| African / African-American | 0.00356% | 28,061 |
| European (non-Finnish) | 0.00277% | 36,166 |
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
- DEAF1
- Protein
- p.Ala24=
- Coding
- c.72T>C
- MANE Select
- NM_021008
- dbSNP
- rs911752105
- Type
- single nucleotide variant
- Location
- chr11:694976 (GRCh38)
- Gene constraint
- LOEUF 1.18 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 61.62 · 3 PDB
Similar variants
- DEAF1 p.Ala24Gly Uncertain significance ★ ⚠ same residue
- TMEM80 p.Tyr24Ser Uncertain significance ★ same residue
- DEAF1 p.Ala24_Ala33del Conflicting classifications of pathogenicity ★ same residue
- DEAF1 c.998-2A>G Likely pathogenic ★★ same type
- DEAF1 p.Arg224Pro Pathogenic/Likely pathogenic ★★ same type
- DEAF1 p.Arg224Trp Pathogenic/Likely pathogenic ★★ same type
- DEAF1 p.Arg226Trp Pathogenic/Likely pathogenic ★★ same type
- DEAF1 p.Arg246Thr Pathogenic/Likely pathogenic ★★ 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/deaf1-p-ala24 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown