G17A (p.Gly17Ala) variant of MYO15A (Unconventional myosin-XV)
G17A (p.Gly17Ala) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- gnomAD 17-18118850-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.47
- CADD 16.30
- PolyPhen-2 0.03
- SIFT 0.36
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available