R43K (p.Arg43Lys) variant of CYP11B1 (P15538)
R43K (p.Arg43Lys) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R43K (p.Arg43Lys) variant details
- p.Arg43Lys
- rs749627330
- gnomAD 8-142875343-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 5.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available