Q37H (p.Gln37His) variant of MYO7A (Unconventional myosin-VIIa)
Q37H (p.Gln37His) in MYO7A (Unconventional myosin-VIIa) 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 0.46 / 1. The record also includes structural context.
Q37H (p.Gln37His) variant details
- p.Gln37His
- rs1461064082
- ClinGen CA381926518
- ClinVar RCV002018664
- TOPMed rs1461064082
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 0.35
- MetaLR 0.48
- MetaSVM -0.21
- PolyPhen-2 0.60
- SIFT 0.02
- EVE 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available