S17H (p.Ser17His) variant of CYP11B1 (P15538)
S17H (p.Ser17His) in CYP11B1 (P15538) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S17H (p.Ser17His) variant details
- p.Ser17His
- rs1299931854
- gnomAD 8-142875366-GCT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 1.33
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available