DAAM1 p.His323=
c.969C>T · VCV3499478
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0374%, nfe)
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 0.5 | GERP -3.5, phastCons 1 |
| Overall | ||
| CADD | 10.91 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0374%
European (non-Finnish) · 437/1,167,200 alleles
Filtering AF
0.0345%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0334%
Overall
0.0293%
465/1,586,948 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0374% | 2,671 |
| Middle Eastern | 0.017% | 5,892 |
| Remaining individualsnot grpmax-eligible | 0.0147% | 6,807 |
| African / African-American | 0.0121% | 8,234 |
| Finnishnot grpmax-eligible | 0.00475% | 21,038 |
| South Asian | 0.00474% | 21,098 |
| East Asian | 0.00228% | 43,858 |
| Admixed American | 0.00175% | 57,234 |
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
- DAAM1
- Protein
- p.His323=
- Coding
- c.969C>T
- MANE Select
- NM_001270520
- Type
- single nucleotide variant
- Location
- chr14:59324434 (GRCh38)
- Gene constraint
- LOEUF 0.509 · pLI 0.54 (gnomAD)
- Structure
- AlphaFold pLDDT 80.52 · 2 PDB
- Residue 323
- the gbd/fh3 domain
Similar variants
- DAAM1 p.Arg1011Gly Uncertain significance ★★ ⚠ same type
- DAAM1 p.Phe752Leu Uncertain significance ★★ ⚠ same type
- DAAM1 p.Asn865His Benign ★★ same type
- DAAM1 p.Asp679= Likely benign ★★ same type
- DAAM1 p.Leu804= Benign ★★ same type
- DAAM1 p.Pro49= Benign ★★ same type
- DAAM1 c.1969-1685T>C Uncertain significance ★ ⚠ same type
- DAAM1 c.1969-1686T>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/daam1-p-his323 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown