A26T (p.Ala26Thr) variant of MYH7 (Myosin-7)
A26T (p.Ala26Thr) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1S; Hypertrophic cardiomyopathy 1; Congenital myopathy wi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs775643803
- ClinGen CA049057
- ClinVar RCV001300552
- ClinVar RCV002486159
- Uncertain significance
- Dilated cardiomyopathy 1S; Hypertrophic cardiomyopathy 1; Congenital myopathy wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.52
- CADD 23.90
- PolyPhen-2 0.27
- SIFT 0.04
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1S; Hypertrophic cardiomyopathy 1; Congen)
- EBI: Variant of uncertain significance (in CMH1)
- UniProt: Uncertain significance (in CMH1)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)