R17C (p.Arg17Cys) variant of MYH6 (Myosin-6)
R17C (p.Arg17Cys) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to; Dilated cardio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- rs1131691313
- ClinGen CA389032173
- ClinVar RCV000494494
- ClinVar RCV003224300
- Uncertain significance
- Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to; Dilated cardio
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.79
- CADD 28.90
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)