K865R (p.Lys865Arg) variant of MYH7 (Myosin-7)
K865R (p.Lys865Arg) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
K865R (p.Lys865Arg) variant details
- p.Lys865Arg
- rs758891557
- ClinGen CA033314
- NCI-TCGA Cosmic COSV6252
- ClinVar RCV000628947
- Pathogenic/Likely pathogenic
- Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.75
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.12
- ClinVar: Pathogenic/Likely pathogenic (Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S; not pr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)