ACCS p.Phe325=
c.975C>T · VCV4636690
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0217%, amr)
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 -12 | GERP -3.4 |
| Overall | ||
| CADD | 1.72 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0217%
Admixed American · 13/60,004 alleles
Filtering AF
0.0127%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0101%
Overall
0.00204%
33/1,614,102 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0217% | 4,616 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,829 |
| African / African-American | 0.004% | 24,977 |
| South Asian | 0.00329% | 30,365 |
| European (non-Finnish) | 0.000932% | 107,277 |
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
- ACCS
- Protein
- p.Phe325=
- Coding
- c.975C>T
- MANE Select
- NM_032592
- Type
- single nucleotide variant
- Location
- chr11:44081184 (GRCh38)
- Gene constraint
- LOEUF 0.899 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.63
Similar variants
- ACCS p.Arg489Cys Benign ★★ same type
- ACCS p.Val202= Benign ★★ same type
- ACCS p.Ala11Val Uncertain significance ★ ⚠ same type
- ACCS p.Ala237Thr Uncertain significance ★ ⚠ same type
- ACCS p.Ala77Ser Uncertain significance ★ ⚠ same type
- ACCS p.Arg124Lys Uncertain significance ★ ⚠ same type
- ACCS p.Arg142Gln Uncertain significance ★ ⚠ same type
- ACCS p.Arg142Trp 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/accs-p-phe325 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown