G4C (p.Gly4Cys) variant of C2CD2L (O14523)
G4C (p.Gly4Cys) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G4C (p.Gly4Cys) variant details
- p.Gly4Cys
- gnomAD rs1260329052
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.09
- ESM-1b 0.15
- AlphaMissense 0.15
- CADD 24.80
- PolyPhen-2 0.53
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available