K51N (p.Lys51Asn) variant of TPMT (Thiopurine S-methyltransferase)
K51N (p.Lys51Asn) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K51N (p.Lys51Asn) variant details
- p.Lys51Asn
- Ensembl rs1561891928
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.22
- CADD 21.10
- PolyPhen-2 0.43
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available