S40T (p.Ser40Thr) variant of APOL1 (Apolipoprotein L1)
S40T (p.Ser40Thr) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S40T (p.Ser40Thr) variant details
- p.Ser40Thr
- gnomAD 22-36257339-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.10
- MetaLR 0.02
- MetaSVM -1.00
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available