P2Q (p.Pro2Gln) variant of SERPINA1 (Alpha-1-antitrypsin)
P2Q (p.Pro2Gln) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P2Q (p.Pro2Gln) variant details
- p.Pro2Gln
- cosmic curated COSV63346
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.34
- CADD 19.30
- PolyPhen-2 0.90
- SIFT 0.01
- Population evidence available
- Structural context available