S17T (p.Ser17Thr) variant of CYP11B1 (P15538)
S17T (p.Ser17Thr) 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.
S17T (p.Ser17Thr) variant details
- p.Ser17Thr
- rs1195144979
- gnomAD 8-142875357-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.083
- CADD 0.33
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Literature evidence available