S22L (p.Ser22Leu) variant of C2CD2L (O14523)
S22L (p.Ser22Leu) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- gnomAD 11-119107806-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.80
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available