L120V (p.Leu120Val) variant of MYH6 (Myosin-6)
L120V (p.Leu120Val) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L120V (p.Leu120Val) variant details
- p.Leu120Val
- rs769074801
- ClinGen CA7116183
- ClinVar RCV002933843
- ClinVar RCV004067195
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.65
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)