T34N (p.Thr34Asn) variant of CYP2C19 (Cytochrome P450 2C19)
T34N (p.Thr34Asn) in CYP2C19 (Cytochrome P450 2C19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T34N (p.Thr34Asn) variant details
- p.Thr34Asn
- gnomAD 10-94762806-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.01
- CADD 15.10
- PolyPhen-2 0.73
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- CYP2C19 VAMP-seq nonsynonymous scores: score 0.953
- Literature evidence available