H27N (p.His27Asn) variant of CYP2E1 (Cytochrome P450 2E1)
H27N (p.His27Asn) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
H27N (p.His27Asn) variant details
- p.His27Asn
- rs776753984
- gnomAD 10-133527518-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 6.53
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available