H53R (p.His53Arg) variant of CYP1A2 (Cytochrome P450 1A2)
H53R (p.His53Arg) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
H53R (p.His53Arg) variant details
- p.His53Arg
- gnomAD 15-74749896-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.47
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available