E29Q (p.Glu29Gln) variant of APOL1 (Apolipoprotein L1)
E29Q (p.Glu29Gln) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E29Q (p.Glu29Gln) variant details
- p.Glu29Gln
- gnomAD 22-36257123-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.04
- CADD 5.37
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available