N21K (p.Asn21Lys) variant of TPMT (Thiopurine S-methyltransferase)
N21K (p.Asn21Lys) in TPMT (Thiopurine S-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N21K (p.Asn21Lys) variant details
- p.Asn21Lys
- ExAC rs779065769
- TOPMed rs779065769
- gnomAD rs779065769
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.14
- CADD 17.60
- PolyPhen-2 0.37
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available