A1906G (p.Ala1906Gly) variant of MYH7 (Myosin-7)
A1906G (p.Ala1906Gly) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
A1906G (p.Ala1906Gly) variant details
- p.Ala1906Gly
- rs397516252
- ClinGen CA016404
- ClinVar RCV000035978
- Ensembl rs397516252
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- AlphaMissense 0.38
- MetaLR 0.83
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)