I42T (p.Ile42Thr) variant of CYP2C9 (Cytochrome P450 2C9)
I42T (p.Ile42Thr) in CYP2C9 (Cytochrome P450 2C9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I42T (p.Ile42Thr) variant details
- p.Ile42Thr
- gnomAD 10-94938807-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.18
- CADD 13.00
- PolyPhen-2 0.23
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available