V35S (p.Val35Ser) variant of CYP1A2 (Cytochrome P450 1A2)
V35S (p.Val35Ser) in CYP1A2 (Cytochrome P450 1A2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V35S (p.Val35Ser) variant details
- p.Val35Ser
- rs758752876
- gnomAD 15-74749838-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 2.84
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Literature evidence available