R76H (p.Arg76His) variant of CYP2E1 (Cytochrome P450 2E1)
R76H (p.Arg76His) in CYP2E1 (Cytochrome P450 2E1) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele CYP2E1*2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R76H (p.Arg76His) variant details
- p.Arg76His
- rs72559710
- UniProt VAR 008360
- 1000Genomes rs72559710
- ExAC rs72559710
- Benign
- in allele CYP2E1*2
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.12
- MetaLR 0.39
- MetaSVM -0.54
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.54
- EBI: Benign (in allele CYP2E1*2)
- UniProt: Benign (in allele CYP2E1*2)
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.05)
- Structural context available
- Cited in: Genetic polymorphism of human CYP2E1: characterization of two variant alleles. (PMID 9058590)