R8W (p.Arg8Trp) variant of C2CD2L (O14523)
R8W (p.Arg8Trp) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- gnomAD 11-119107763-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available