R51K (p.Arg51Lys) variant of CYP11B1 (P15538)
R51K (p.Arg51Lys) 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 and structural context.
R51K (p.Arg51Lys) variant details
- p.Arg51Lys
- ExAC rs775358429
- TOPMed rs775358429
- gnomAD rs775358429
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.03
- CADD 6.57
- PolyPhen-2 0.04
- SIFT 0.80
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available