I17V (p.Ile17Val) variant of C2CD2L (O14523)
I17V (p.Ile17Val) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
I17V (p.Ile17Val) variant details
- p.Ile17Val
- gnomAD 11-119107790-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0804
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 3.85
- PolyPhen-2 0.00
- SIFT 0.98
- Population evidence available
- Structural context available
- Literature evidence available