D36V (p.Asp36Val) variant of SERPINA1 (Alpha-1-antitrypsin)
D36V (p.Asp36Val) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D36V (p.Asp36Val) variant details
- p.Asp36Val
- gnomAD rs1158625562
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.41
- CADD 14.40
- PolyPhen-2 0.37
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available