G6R (p.Gly6Arg) variant of C2CD2L (O14523)
G6R (p.Gly6Arg) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- gnomAD 11-119107757-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available