G110V (p.Gly110Val) variant of MYH7 (Myosin-7)
G110V (p.Gly110Val) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
G110V (p.Gly110Val) variant details
- p.Gly110Val
- rs730880728
- ClinGen CA013553
- ClinVar RCV000158500
- Ensembl rs730880728
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.33
- ESM-1b 0.59
- AlphaMissense 0.16
- MetaLR 0.21
- MetaSVM -0.89
- CADD 11.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available