H13R (p.His13Arg) variant of CYP27B1 (O15528)
H13R (p.His13Arg) in CYP27B1 (O15528) 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 0.24 / 1. The record also includes population frequency data and structural context.
H13R (p.His13Arg) variant details
- p.His13Arg
- rs1194321036
- NCI-TCGA Cosmic COSV5734
- gnomAD rs1194321036
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.16
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available