R35Q (p.Arg35Gln) variant of C2CD2L (O14523)
R35Q (p.Arg35Gln) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- gnomAD 11-119107845-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 28.80
- PolyPhen-2 0.73
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available