A26V (p.Ala26Val) variant of MYH7 (Myosin-7)
A26V (p.Ala26Val) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- rs186964570
- ClinGen CA016817
- ClinVar RCV000036003
- ClinVar RCV000148713
- Benign
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.29
- MetaLR 0.46
- MetaSVM -0.29
- CADD 23.40
- ClinVar: Benign (Hypertrophic cardiomyopathy)
- EBI: Benign (in CMH1)
- UniProt: Benign (in CMH1)
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available
- Cited in: Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PMID 15563892)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)