S129P (p.Ser129Pro) variant of TPMT (Thiopurine S-methyltransferase)
S129P (p.Ser129Pro) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S129P (p.Ser129Pro) variant details
- p.Ser129Pro
- gnomAD rs1396619437
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.42
- CADD 24.00
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available