R51T (p.Arg51Thr) variant of CYP11B1 (P15538)
R51T (p.Arg51Thr) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R51T (p.Arg51Thr) variant details
- p.Arg51Thr
- ExAC rs775358429
- TOPMed rs775358429
- gnomAD rs775358429
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.26
- CADD 20.60
- PolyPhen-2 0.82
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available