G110D (p.Gly110Asp) variant of CASK (O14936)
G110D (p.Gly110Asp) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
G110D (p.Gly110Asp) variant details
- p.Gly110Asp
- ExAC rs759852198
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.63
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available