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 0.60 / 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 0.597
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.68
- MetaSVM 0.36
- CADD 27.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available