K55N (p.Lys55Asn) variant of CYP2E1 (Cytochrome P450 2E1)
K55N (p.Lys55Asn) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
K55N (p.Lys55Asn) variant details
- p.Lys55Asn
- gnomAD 10-133527560-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.09
- MetaLR 0.19
- MetaSVM -0.90
- CADD 8.44
- PolyPhen-2 0.06
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available