UACA p.Leu277=
c.831G>A · rs1288295243 · VCV3041158
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0089%, amr)
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 1.8 | GERP 0.47, phastCons 0.93 |
| Overall | ||
| CADD | 11.82 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0089%
Admixed American · 5/56,176 alleles
Filtering AF
0.00343%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00219%
Overall
0.000441%
7/1,587,292 alleles · very rare
exomes 5/1,435,416 · genomes 2/151,876 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0089% | 11,235 |
| European (non-Finnish) | 0.000171% | 583,553 |
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.Leu277=
- Coding
- c.831G>A
- MANE Select
- NM_018003
- dbSNP
- rs1288295243
- Type
- single nucleotide variant
- Location
- chr15:70679668 (GRCh38)
- Gene constraint
- LOEUF 0.833 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.08
Disease context
UACA-related disorder
Similar variants
- 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
- UACA p.Asn325Ser 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-leu277 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown