R43S (p.Arg43Ser) variant of CYP11B1 (P15538)
R43S (p.Arg43Ser) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R43S (p.Arg43Ser) variant details
- p.Arg43Ser
- gnomAD 8-142875342-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- CADD 8.72
- Population evidence available
- Structural context available
- Literature evidence available