V65L (p.Val65Leu) variant of TPMT (Thiopurine S-methyltransferase)
V65L (p.Val65Leu) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V65L (p.Val65Leu) variant details
- p.Val65Leu
- ExAC rs781428057
- gnomAD rs781428057
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.39
- CADD 13.60
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available