S10L (p.Ser10Leu) variant of CYP1A2 (Cytochrome P450 1A2)
S10L (p.Ser10Leu) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S10L (p.Ser10Leu) variant details
- p.Ser10Leu
- ESP rs372412769
- ExAC rs372412769
- TOPMed rs372412769
- gnomAD rs372412769
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.21
- CADD 13.40
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00077)
- Structural context available