R29H (p.Arg29His) variant of CYP2B6 (Cytochrome P450 2B6)
R29H (p.Arg29His) in CYP2B6 (Cytochrome P450 2B6) 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 0.07 / 1. The record also includes population frequency data and structural context.
R29H (p.Arg29His) variant details
- p.Arg29His
- rs34284776
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- 1000Genomes rs34284776
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0708
- REVEL 0.03
- MetaLR 0.00
- MetaSVM -0.98
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs33926104)
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available