R1608P (p.Arg1608Pro) variant of MYH7 (Myosin-7)
R1608P (p.Arg1608Pro) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of MYH7-related skeletal myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
R1608P (p.Arg1608Pro) variant details
- p.Arg1608Pro
- rs587779391
- ClinGen CA015359
- ClinVar RCV000132751
- ExAC rs587779391
- Pathogenic
- MYH7-related skeletal myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- AlphaMissense 0.96
- MetaLR 0.68
- MetaSVM 0.52
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.69
- ClinVar: Pathogenic (MYH7-related skeletal myopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Laing Distal Myopathy. (PMID 20301606)