A26G (p.Ala26Gly) variant of MYH6 (Myosin-6)
A26G (p.Ala26Gly) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A26G (p.Ala26Gly) variant details
- p.Ala26Gly
- rs559973480
- ClinGen CA7116272
- ClinVar RCV000463202
- ClinVar RCV002411448
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.51
- CADD 23.90
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)