S17C (p.Ser17Cys) variant of APOL1 (Apolipoprotein L1)
S17C (p.Ser17Cys) 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.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- rs1399632983
- gnomAD 22-36254927-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 9.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available