V59L (p.Val59Leu) variant of MYH6 (Myosin-6)
V59L (p.Val59Leu) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 14; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V59L (p.Val59Leu) variant details
- p.Val59Leu
- rs377029781
- ClinGen CA7116254
- ClinVar RCV001943682
- ClinVar RCV003322905
- Uncertain significance
- Hypertrophic cardiomyopathy 14; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.35
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14; Cardiovascular phenotype; not pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)