G75D (p.Gly75Asp) variant of MYL2 (P10916)
G75D (p.Gly75Asp) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G75D (p.Gly75Asp) variant details
- p.Gly75Asp
- rs1358412542
- ClinGen CA386698746
- ClinVar RCV004014766
- TOPMed rs1358412542
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.87
- CADD 25.40
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available