Q44E (p.Gln44Glu) variant of MYH7 (Myosin-7)
Q44E (p.Gln44Glu) 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 0.17 / 1. The record also includes structural context.
Q44E (p.Gln44Glu) variant details
- p.Gln44Glu
- Ensembl rs730880829
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.08
- MetaSVM -1.04
- CADD 10.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available