G4D (p.Gly4Asp) variant of C2CD2L (O14523)
G4D (p.Gly4Asp) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G4D (p.Gly4Asp) variant details
- p.Gly4Asp
- gnomAD 11-119107752-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Latino/Admixed American population (allele frequency 9e-05)
- Structural context available
- Literature evidence available