L69V (p.Leu69Val) variant of TPMT (Thiopurine S-methyltransferase)
L69V (p.Leu69Val) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L69V (p.Leu69Val) variant details
- p.Leu69Val
- 1000Genomes rs200591577
- ExAC rs200591577
- TOPMed rs200591577
- gnomAD rs200591577
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.53
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available