K37N (p.Lys37Asn) variant of TPMT (Thiopurine S-methyltransferase)
K37N (p.Lys37Asn) in TPMT (Thiopurine S-methyltransferase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
K37N (p.Lys37Asn) variant details
- p.Lys37Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.17
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.97
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available