Y109H (p.Tyr109His) variant of MYH6 (Myosin-6)
Y109H (p.Tyr109His) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 1; Sick sinus syndrome 3, susceptibility to; Atrial. 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.
Y109H (p.Tyr109His) variant details
- p.Tyr109His
- rs926609805
- ClinGen CA257799148
- ClinVar RCV002224227
- ClinVar RCV002505883
- Uncertain significance
- Hypertrophic cardiomyopathy 1; Sick sinus syndrome 3, susceptibility to; Atrial
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.93
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 1; Sick sinus syndrome 3, susceptibi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)