A66V (p.Ala66Val) variant of SERPINA1 (Alpha-1-antitrypsin)
A66V (p.Ala66Val) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A66V (p.Ala66Val) variant details
- p.Ala66Val
- ExAC rs769400992
- TOPMed rs769400992
- gnomAD rs769400992
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.37
- CADD 14.90
- PolyPhen-2 0.15
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available