W30S (p.Trp30Ser) variant of CYP2E1 (Cytochrome P450 2E1)
W30S (p.Trp30Ser) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
W30S (p.Trp30Ser) variant details
- p.Trp30Ser
- Ensembl rs1851284477
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.21
- MetaLR 0.27
- MetaSVM -0.52
- CADD 24.80
- PolyPhen-2 0.44
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available