E98Q (p.Glu98Gln) variant of MYH7 (Myosin-7)
E98Q (p.Glu98Gln) in MYH7 (Myosin-7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E98Q (p.Glu98Gln) variant details
- p.Glu98Gln
- gnomAD rs1440846436
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.86
- AlphaMissense 0.93
- MetaLR 0.84
- MetaSVM 0.88
- CADD 25.70
- PolyPhen-2 0.93
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available