G4R (p.Gly4Arg) variant of C2CD2L (O14523)
G4R (p.Gly4Arg) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- gnomAD 11-119107751-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.20
- PolyPhen-2 0.29
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available