G11R (p.Gly11Arg) variant of C2CD2L (O14523)
G11R (p.Gly11Arg) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- TOPMed rs928508199
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.45
- CADD 24.30
- PolyPhen-2 0.48
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available