R54G (p.Arg54Gly) variant of MYH7 (Myosin-7)
R54G (p.Arg54Gly) in MYH7 (Myosin-7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- ExAC rs761841748
- TOPMed rs761841748
- gnomAD rs761841748
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.50
- CADD 23.60
- PolyPhen-2 0.60
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available