A84V (p.Ala84Val) variant of SERPINA1 (Alpha-1-antitrypsin)
A84V (p.Ala84Val) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A84V (p.Ala84Val) variant details
- p.Ala84Val
- cosmic curated COSV63345
- gnomAD rs1460874866
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.69
- CADD 26.80
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available