Q32H (p.Gln32His) variant of C2CD2L (O14523)
Q32H (p.Gln32His) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q32H (p.Gln32His) variant details
- p.Gln32His
- gnomAD 11-119107837-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.68
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available