N44K (p.Asn44Lys) variant of CYP2E1 (Cytochrome P450 2E1)
N44K (p.Asn44Lys) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N44K (p.Asn44Lys) variant details
- p.Asn44Lys
- 1000Genomes rs527949682
- ExAC rs527949682
- gnomAD rs527949682
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.45
- MetaLR 0.55
- MetaSVM -0.03
- CADD 13.80
- PolyPhen-2 1.00
- SIFT 0.56
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available