N56N (p.Asn56Asn) variant of CYP2C19 (Cytochrome P450 2C19)
N56N (p.Asn56Asn) in CYP2C19 (Cytochrome P450 2C19) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N56N (p.Asn56Asn) variant details
- p.Asn56Asn
- rs745382759
- gnomAD 10-94762873-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0816
- CADD 0.69
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.977
- Literature evidence available