E7D (p.Glu7Asp) variant of MYO15A (Unconventional myosin-XV)
E7D (p.Glu7Asp) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- ExAC rs750512324
- TOPMed rs750512324
- gnomAD rs750512324
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 5.70
- PolyPhen-2 0.00
- SIFT 0.78
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available