K48N (p.Lys48Asn) variant of CYP2C19 (Cytochrome P450 2C19)
K48N (p.Lys48Asn) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K48N (p.Lys48Asn) variant details
- p.Lys48Asn
- gnomAD rs1176523089
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.06
- MetaLR 0.19
- MetaSVM -0.88
- CADD 7.65
- PolyPhen-2 0.19
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 1.05