L49S (p.Leu49Ser) variant of TPMT (Thiopurine S-methyltransferase)
L49S (p.Leu49Ser) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L49S (p.Leu49Ser) variant details
- p.Leu49Ser
- rs72552740
- UniProt VAR 005636
- TOPMed rs72552740
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.69
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Thiopurine S-methyltransferase pharmacogenetics: variant allele functional and comparative genomics. (PMID 16220112)
- Cited in: Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. (PMID 9246020)