K48N (p.Lys48Asn) variant of CYP2C9 (Cytochrome P450 2C9)
K48N (p.Lys48Asn) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
K48N (p.Lys48Asn) variant details
- p.Lys48Asn
- gnomAD 10-94938826-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.09
- CADD 14.90
- PolyPhen-2 0.23
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available