V125L (p.Val125Leu) variant of MYH6 (Myosin-6)
V125L (p.Val125Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V125L (p.Val125Leu) variant details
- p.Val125Leu
- rs1891751838
- ClinGen CA389031169
- ClinVar RCV003823137
- TOPMed rs1891751838
- Uncertain significance
- Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.70
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)