G4V (p.Gly4Val) variant of C2CD2L (O14523)
G4V (p.Gly4Val) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G4V (p.Gly4Val) variant details
- p.Gly4Val
- gnomAD 11-119107752-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.50
- PolyPhen-2 0.21
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available