P830L (p.Pro830Leu) variant of MYH6 (Myosin-6)
P830L (p.Pro830Leu) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dilated cardiomyopathy 1EE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P830L (p.Pro830Leu) variant details
- p.Pro830Leu
- rs267606906
- ClinGen CA257138
- ClinVar RCV000015213
- UniProt VAR 063552
- Pathogenic
- Dilated cardiomyopathy 1EE
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.94
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (Dilated cardiomyopathy 1EE)
- EBI: Pathogenic (in CMD1EE)
- UniProt: Pathogenic (in CMD1EE)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. (PMID 15998695)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)