G8V (p.Gly8Val) variant of SERPINA1 (Alpha-1-antitrypsin)
G8V (p.Gly8Val) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- ExAC rs773588978
- TOPMed rs773588978
- gnomAD rs773588978
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.35
- CADD 15.80
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available