V34M (p.Val34Met) variant of APOL1 (Apolipoprotein L1)
V34M (p.Val34Met) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V34M (p.Val34Met) variant details
- p.Val34Met
- ExAC rs757839437
- gnomAD rs757839437
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.14
- CADD 11.60
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available