Q44* (p.Gln44Ter) variant of MYH7 (Myosin-7)
Q44* (p.Gln44Ter) in MYH7 (Myosin-7) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- rs730880829
- ClinGen CA010506
- ClinVar RCV000158724
- Ensembl rs730880829
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.287
- AlphaMissense 0.05
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available