UACA p.Asn371=
c.1113T>C · rs61741196 · VCV3056160
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 3.87%, afr)
Conditions
1
UACA-related disorder
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 0.093 | GERP -4.3, phastCons 0.084 |
| Overall | ||
| CADD | 3.999 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.87%
African / African-American · 2,898/74,968 alleles
Filtering AF
3.75%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.7%
Overall
0.201%
3,232/1,611,090 alleles · low-frequency
exomes 1,587/1,458,842 · genomes 1,645/152,248 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.87% | 26 |
| Remaining individualsnot grpmax-eligible | 0.194% | 516 |
| Admixed American | 0.187% | 535 |
| Middle Eastern | 0.118% | 851 |
| South Asian | 0.0077% | 12,989 |
| European (non-Finnish) | 0.00738% | 13,547 |
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
- UACA
- Protein
- p.Asn371=
- Coding
- c.1113T>C
- MANE Select
- NM_018003
- dbSNP
- rs61741196
- Type
- single nucleotide variant
- Location
- chr15:70676511 (GRCh38)
- Gene constraint
- LOEUF 0.833 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.08
Disease context
UACA-related disorder
Similar variants
- UACA p.Asn371Ser Uncertain significance ★ ⚠ same residue
- UACA c.79-6T>C Benign same condition
- UACA c.822+5A>G Benign same condition
- UACA c.999+9A>G Likely benign same condition
- UACA p.Ala108= Likely benign same condition
- UACA p.Ala621= Likely benign same condition
- UACA p.Asn1336= Benign same condition
- UACA p.Asn1336Ser Likely benign same condition
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/uaca-p-asn371 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown