C47F (p.Cys47Phe) variant of MECOM (Q03112)
C47F (p.Cys47Phe) in MECOM (Q03112) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MECOM-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
C47F (p.Cys47Phe) variant details
- p.Cys47Phe
- ExAC rs768309554
- TOPMed rs768309554
- gnomAD rs768309554
- Uncertain significance
- MECOM-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 15.40
- PolyPhen-2 0.05
- SIFT 0.19
- ClinVar: Uncertain significance (MECOM-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)