K40R (p.Lys40Arg) variant of CYP1A2 (Cytochrome P450 1A2)
K40R (p.Lys40Arg) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K40R (p.Lys40Arg) variant details
- p.Lys40Arg
- ExAC rs200789139
- TOPMed rs200789139
- gnomAD rs200789139
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.16
- CADD 22.50
- PolyPhen-2 0.83
- SIFT 0.49
- Most common in the HGDP:YAKUT population (allele frequency 0.1)
- Structural context available