L105R (p.Leu105Arg) variant of TPMT (Thiopurine S-methyltransferase)
L105R (p.Leu105Arg) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L105R (p.Leu105Arg) variant details
- p.Leu105Arg
- TOPMed rs1474060016
- gnomAD rs1474060016
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.77
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available