Q7H (p.Gln7His) variant of C2CD2L (O14523)
Q7H (p.Gln7His) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q7H (p.Gln7His) variant details
- p.Gln7His
- gnomAD 11-119107762-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 20.80
- PolyPhen-2 0.28
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available