A100G (p.Ala100Gly) variant of MYH7 (Myosin-7)
A100G (p.Ala100Gly) in MYH7 (Myosin-7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
A100G (p.Ala100Gly) variant details
- p.Ala100Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.67
- MetaSVM 0.43
- CADD 28.10
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available