R140K (p.Arg140Lys) variant of TPMT (Thiopurine S-methyltransferase)
R140K (p.Arg140Lys) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R140K (p.Arg140Lys) variant details
- p.Arg140Lys
- ExAC rs768603346
- gnomAD rs768603346
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.14
- CADD 33.00
- PolyPhen-2 0.74
- SIFT 0.55
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available