S17T (p.Ser17Thr) variant of APOL1 (Apolipoprotein L1)
S17T (p.Ser17Thr) in APOL1 (Apolipoprotein L1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S17T (p.Ser17Thr) variant details
- p.Ser17Thr
- rs747442118
- gnomAD 22-36254950-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 16.40
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available