R960C (p.Arg960Cys) variant of MECOM (Q03112)
R960C (p.Arg960Cys) in MECOM (Q03112) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Radioulnar synostosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data.
R960C (p.Arg960Cys) variant details
- p.Arg960Cys
- rs2148891037
- ClinGen CA355074056
- NCI-TCGA Cosmic COSV5296
- cosmic curated COSV52962
- Pathogenic
- Radioulnar synostosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- MutPred 0.81
- ClinVar: Pathogenic (Radioulnar synostosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available