R63H (p.Arg63His) variant of CYP2E1 (Cytochrome P450 2E1)
R63H (p.Arg63His) in CYP2E1 (Cytochrome P450 2E1) 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 0.25 / 1. The record also includes population frequency data and structural context.
R63H (p.Arg63His) variant details
- p.Arg63His
- rs1354838426
- NCI-TCGA Cosmic COSV9942
- cosmic curated COSV99429
- TOPMed rs1354838426
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.16
- MetaLR 0.25
- MetaSVM -0.83
- CADD 23.40
- PolyPhen-2 0.68
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available