R54L (p.Arg54Leu) variant of MYH6 (Myosin-6)
R54L (p.Arg54Leu) in MYH6 (Myosin-6) 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 0.54 / 1. The record also includes population frequency data and structural context.
R54L (p.Arg54Leu) variant details
- p.Arg54Leu
- cosmic curated COSV62454
- ExAC rs727503239
- TOPMed rs727503239
- gnomAD rs727503239
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.46
- CADD 23.30
- PolyPhen-2 0.57
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available