E113K (p.Glu113Lys) variant of SERPINA1 (Alpha-1-antitrypsin)
E113K (p.Glu113Lys) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E113K (p.Glu113Lys) variant details
- p.Glu113Lys
- cosmic curated COSV10610
- ExAC rs765628480
- gnomAD rs765628480
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.44
- CADD 23.30
- PolyPhen-2 0.79
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available