E2G (p.Glu2Gly) variant of APOL1 (Apolipoprotein L1)
E2G (p.Glu2Gly) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- gnomAD 22-36254960-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.03
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available