Y115H (p.Tyr115His) variant of MYH6 (Myosin-6)
Y115H (p.Tyr115His) 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 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Y115H (p.Tyr115His) variant details
- p.Tyr115His
- rs777804028
- ClinGen CA7116203
- ClinVar RCV002471704
- ExAC rs777804028
- Uncertain significance
- Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.91
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)