V21L (p.Val21Leu) variant of SERPINA1 (Alpha-1-antitrypsin)
V21L (p.Val21Leu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- Ensembl rs1448214480
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.32
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available