DAAM1 p.Pro49=
c.147T>C · rs34733575 · VCV710220
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.64%, 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 -0.29 | GERP -2.3, phastCons 0.43 |
| Overall | ||
| CADD | 10.19 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.64%
African / African-American · 1,977/75,022 alleles
Filtering AF
2.54%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.5%
Overall
0.138%
2,231/1,614,138 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.64% | 38 |
| Remaining individualsnot grpmax-eligible | 0.166% | 601 |
| Admixed American | 0.123% | 811 |
| Middle Eastern | 0.115% | 866 |
| South Asian | 0.00549% | 18,216 |
| European (non-Finnish) | 0.00542% | 18,438 |
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.Pro49=
- Coding
- c.147T>C
- MANE Select
- NM_001270520
- dbSNP
- rs34733575
- Type
- single nucleotide variant
- Location
- chr14:59263624 (GRCh38)
- Gene constraint
- LOEUF 0.509 · pLI 0.54 (gnomAD)
- Structure
- AlphaFold pLDDT 80.52 · 2 PDB
- Residue 49
- 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 c.1969-1685T>C Uncertain significance ★ ⚠ same type
- DAAM1 c.1969-1686T>G Uncertain significance ★ ⚠ same type
- DAAM1 p.Ala37Val 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-pro49 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown