R17S (p.Arg17Ser) variant of MYH7 (Myosin-7)
R17S (p.Arg17Ser) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
R17S (p.Arg17Ser) variant details
- p.Arg17Ser
- rs45511396
- ClinGen CA389054099
- ClinVar RCV004012403
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- AlphaMissense 0.84
- MetaLR 0.82
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)