T12K (p.Thr12Lys) variant of MECOM (Q03112)
T12K (p.Thr12Lys) in MECOM (Q03112) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Radioulnar synostosis with amegakaryocytic thrombocytopenia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
T12K (p.Thr12Lys) variant details
- p.Thr12Lys
- ExAC rs759668706
- gnomAD rs759668706
- Likely benign
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Radioulnar synostosis with amegakaryocytic thrombocytopenia 2)
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00034)