G4A (p.Gly4Ala) variant of C2CD2L (O14523)
G4A (p.Gly4Ala) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G4A (p.Gly4Ala) variant details
- p.Gly4Ala
- gnomAD 11-119107752-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.60
- PolyPhen-2 0.04
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available