R8Q (p.Arg8Gln) variant of C2CD2L (O14523)
R8Q (p.Arg8Gln) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- gnomAD 11-119107764-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0731
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 1.55
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available