P31L (p.Pro31Leu) variant of CYP2C9 (Cytochrome P450 2C9)
P31L (p.Pro31Leu) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- gnomAD 10-94938774-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.32
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available