Y61C (p.Tyr61Cys) variant of CYP2C19 (Cytochrome P450 2C19)
Y61C (p.Tyr61Cys) in CYP2C19 (Cytochrome P450 2C19) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y61C (p.Tyr61Cys) variant details
- p.Tyr61Cys
- TOPMed rs1848387818
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.52
- MetaLR 0.64
- MetaSVM 0.15
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.148