A80V (p.Ala80Val) variant of TPMT (Thiopurine S-methyltransferase)
A80V (p.Ala80Val) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
A80V (p.Ala80Val) variant details
- p.Ala80Val
- 1000Genomes rs190484211
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.65
- CADD 27.60
- PolyPhen-2 0.97
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available