S17K (p.Ser17Lys) variant of CYP11B1 (P15538)
S17K (p.Ser17Lys) in CYP11B1 (P15538) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S17K (p.Ser17Lys) variant details
- p.Ser17Lys
- gnomAD 8-142875358-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0829
- CADD 0.32
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available