P3Q (p.Pro3Gln) variant of C2CD2L (O14523)
P3Q (p.Pro3Gln) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P3Q (p.Pro3Gln) variant details
- p.Pro3Gln
- gnomAD 11-119107749-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 15.80
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available