DAZAP1 p.Pro271=
c.813T>C · rs113778676 · VCV768947
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.47%, 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 -10 | GERP -2.6 |
| Overall | ||
| CADD | 0.125 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.47%
African / African-American · 2,815/62,978 alleles
Filtering AF
4.33%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.28%
Overall
0.24%
3,110/1,297,966 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.47% | 22 |
| Remaining individualsnot grpmax-eligible | 0.374% | 267 |
| Admixed American | 0.195% | 513 |
| Middle Eastern | 0.111% | 901 |
| South Asian | 0.00656% | 15,244 |
| East Asian | 0.00388% | 25,806 |
| European (non-Finnish) | 0.00236% | 42,448 |
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
- DAZAP1
- Protein
- p.Pro271=
- Coding
- c.813T>C
- MANE Select
- NM_018959
- dbSNP
- rs113778676
- Type
- single nucleotide variant
- Location
- chr19:1430304 (GRCh38)
- Gene constraint
- LOEUF 0.236 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 65.53 · 2 PDB
- Residue 271
- the 'disordered' region
Similar variants
- DAZAP1 p.Ala214Thr Uncertain significance ★ ⚠ same type
- DAZAP1 p.Ala242Thr Uncertain significance ★ ⚠ same type
- DAZAP1 p.Ala251Gly Uncertain significance ★ ⚠ same type
- DAZAP1 p.Ala255Val Uncertain significance ★ ⚠ same type
- DAZAP1 p.Ala331Val Uncertain significance ★ ⚠ same type
- DAZAP1 p.Ala340Thr Uncertain significance ★ ⚠ same type
- DAZAP1 p.Arg88Trp Uncertain significance ★ ⚠ same type
- DAZAP1 p.Arg96Trp 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/dazap1-p-pro271 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown