T821A (p.Thr821Ala) variant of MECOM (Q03112)
T821A (p.Thr821Ala) in MECOM (Q03112) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Radioulnar synostosis with amegakaryocytic thrombocytopenia 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
T821A (p.Thr821Ala) variant details
- p.Thr821Ala
- ExAC rs750112127
- gnomAD rs750112127
- Pathogenic
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Pathogenic (Radioulnar synostosis with amegakaryocytic thrombocytopenia 2)
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)