K6R (p.Lys6Arg) variant of CYP11B1 (P15538)
K6R (p.Lys6Arg) in CYP11B1 (P15538) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
K6R (p.Lys6Arg) variant details
- p.Lys6Arg
- gnomAD 8-142875380-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.88
- Population evidence available
- Structural context available
- Literature evidence available