P42R (p.Pro42Arg) variant of CYP1A2 (Cytochrome P450 1A2)
P42R (p.Pro42Arg) in CYP1A2 (Cytochrome P450 1A2) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele CYP1A2*15. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
P42R (p.Pro42Arg) variant details
- p.Pro42Arg
- rs72547511
- UniProt VAR 025182
- Ensembl rs72547511
- Benign
- in allele CYP1A2*15
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 0.44
- MetaLR 0.77
- MetaSVM 0.13
- SIFT 0.02
- MutPred 0.70
- EBI: Benign (in allele CYP1A2*15)
- UniProt: Benign (in allele CYP1A2*15)
- Structural context available
- Cited in: Single nucleotide polymorphisms and haplotypes of CYP1A2 in a Japanese population. (PMID 15770072)