G39C (p.Gly39Cys) variant of MYO15A (Unconventional myosin-XV)
G39C (p.Gly39Cys) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G39C (p.Gly39Cys) variant details
- p.Gly39Cys
- gnomAD 17-18118915-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available