R28H (p.Arg28His) variant of CYP3A5 (Cytochrome P450 3A5)
R28H (p.Arg28His) in CYP3A5 (Cytochrome P450 3A5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in allele CYP3A5*8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data and structural context.
R28H (p.Arg28His) variant details
- p.Arg28His
- rs769315225
- NCI-TCGA Cosmic COSV5611
- cosmic curated COSV56119
- ExAC rs769315225
- Variant assessed as somatic; moderate impact.
- in allele CYP3A5*8
- Missense
- Variant Prioritization Score for Impact Estimate 0.0322
- REVEL 0.01
- CADD 0.49
- PolyPhen-2 0.00
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact. (in allele CYP3A5*8)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available