H53N (p.His53Asn) variant of CYP1A2 (Cytochrome P450 1A2)
H53N (p.His53Asn) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
H53N (p.His53Asn) variant details
- p.His53Asn
- TOPMed rs1420021422
- gnomAD rs1420021422
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.12
- CADD 10.50
- PolyPhen-2 0.10
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available