L138F (p.Leu138Phe) variant of TPMT (Thiopurine S-methyltransferase)
L138F (p.Leu138Phe) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L138F (p.Leu138Phe) variant details
- p.Leu138Phe
- rs372997906
- ClinGen CA3650202
- ClinVar RCV004187293
- ESP rs372997906
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.17
- CADD 21.20
- PolyPhen-2 0.03
- SIFT 0.47
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available