G14E (p.Gly14Glu) variant of MYO15A (Unconventional myosin-XV)
G14E (p.Gly14Glu) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G14E (p.Gly14Glu) variant details
- p.Gly14Glu
- gnomAD 17-18118841-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.55
- CADD 24.10
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available