S40R (p.Ser40Arg) variant of APOL1 (Apolipoprotein L1)
S40R (p.Ser40Arg) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
S40R (p.Ser40Arg) variant details
- p.Ser40Arg
- ExAC rs769154675
- TOPMed rs769154675
- gnomAD rs769154675
- Missense
- Variant Prioritization Score for Impact Estimate 0.0803
- REVEL 0.05
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available