R4K (p.Arg4Lys) variant of CYP11B1 (P15538)
R4K (p.Arg4Lys) in CYP11B1 (P15538) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R4K (p.Arg4Lys) variant details
- p.Arg4Lys
- rs748062304
- NCI-TCGA Cosmic COSV5282
- NCI-TCGA Cosmic COSV9945
- cosmic curated COSV99454
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.23
- AlphaMissense 0.29
- MetaLR 0.55
- MetaSVM -0.39
- CADD 19.40
- PolyPhen-2 0.99
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available