E20G (p.Glu20Gly) variant of MYH7 (Myosin-7)
E20G (p.Glu20Gly) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
E20G (p.Glu20Gly) variant details
- p.Glu20Gly
- rs2502322776
- ClinGen CA389054067
- ClinVar RCV003301219
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.68
- MetaSVM 0.41
- CADD 32.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available