R51S (p.Arg51Ser) variant of CYP11B1 (P15538)
R51S (p.Arg51Ser) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R51S (p.Arg51Ser) variant details
- p.Arg51Ser
- ExAC rs769684367
- gnomAD rs769684367
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.22
- CADD 22.70
- PolyPhen-2 0.70
- SIFT 0.04
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available