G14V (p.Gly14Val) variant of SERPINA1 (Alpha-1-antitrypsin)
G14V (p.Gly14Val) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- rs768352001
- ClinGen CA7327564
- ClinVar RCV000730134
- ExAC rs768352001
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.59
- CADD 22.80
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available