G66S (p.Gly66Ser) variant of MYH7 (Myosin-7)
G66S (p.Gly66Ser) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
G66S (p.Gly66Ser) variant details
- p.Gly66Ser
- rs2502322049
- ClinGen CA389053593
- ClinVar RCV003443922
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.16
- MetaLR 0.81
- MetaSVM 0.76
- CADD 24.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available