N56S (p.Asn56Ser) variant of CYP2C19 (Cytochrome P450 2C19)
N56S (p.Asn56Ser) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N56S (p.Asn56Ser) variant details
- p.Asn56Ser
- cosmic curated COSV10606
- TOPMed rs1848191858
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.06
- MetaLR 0.14
- MetaSVM -0.97
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.977