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 0.86 / 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 0.863
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.84
- MetaSVM 0.88
- CADD 29.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available