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 0.79 / 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 0.785
- REVEL 0.76
- AlphaMissense 0.95
- MetaLR 0.80
- MetaSVM 0.86
- CADD 26.50
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available