R67S (p.Arg67Ser) variant of CYP1A2 (Cytochrome P450 1A2)
R67S (p.Arg67Ser) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R67S (p.Arg67Ser) variant details
- p.Arg67Ser
- gnomAD 15-74749939-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.24
- CADD 14.70
- PolyPhen-2 0.25
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available