I50N (p.Ile50Asn) variant of CYP2C9 (Cytochrome P450 2C9)
I50N (p.Ile50Asn) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I50N (p.Ile50Asn) variant details
- p.Ile50Asn
- gnomAD 10-94938831-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.05
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available