G75V (p.Gly75Val) variant of MYL2 (P10916)
G75V (p.Gly75Val) 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 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G75V (p.Gly75Val) variant details
- p.Gly75Val
- TOPMed rs1358412542
- gnomAD rs1358412542
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- CADD 3.24
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available