W112* (p.Trp112Ter) variant of MYH7 (Myosin-7)
W112* (p.Trp112Ter) 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 0.88 / 1. The record also includes population frequency data and structural context.
W112* (p.Trp112Ter) variant details
- p.Trp112Ter
- rs1431719401
- ClinGen CA389053048
- ClinVar RCV002023549
- gnomAD rs1431719401
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.878
- CADD 40.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available