D74E (p.Asp74Glu) variant of MYH7 (Myosin-7)
D74E (p.Asp74Glu) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
D74E (p.Asp74Glu) variant details
- p.Asp74Glu
- rs763193107
- ClinGen CA389053462
- ClinVar RCV002573943
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- ESM-1b 0.00
- AlphaMissense 0.11
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available