L108V (p.Leu108Val) variant of SERPINA1 (Alpha-1-antitrypsin)
L108V (p.Leu108Val) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L108V (p.Leu108Val) variant details
- p.Leu108Val
- Ensembl rs779344345
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.41
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available