A100E (p.Ala100Glu) variant of MYH7 (Myosin-7)
A100E (p.Ala100Glu) 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 0.80 / 1. The record also includes population frequency data and structural context.
A100E (p.Ala100Glu) variant details
- p.Ala100Glu
- gnomAD rs876657882
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.86
- CADD 27.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available