V21A (p.Val21Ala) variant of SERPINA1 (Alpha-1-antitrypsin)
V21A (p.Val21Ala) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- TOPMed rs1897077671
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.32
- CADD 3.42
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available