G51D (p.Gly51Asp) variant of MYO15A (Unconventional myosin-XV)
G51D (p.Gly51Asp) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G51D (p.Gly51Asp) variant details
- p.Gly51Asp
- 1000Genomes rs569331416
- ExAC rs569331416
- TOPMed rs569331416
- gnomAD rs569331416
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.93
- CADD 23.50
- PolyPhen-2 0.86
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available