A34D (p.Ala34Asp) variant of C2CD2L (O14523)
A34D (p.Ala34Asp) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A34D (p.Ala34Asp) variant details
- p.Ala34Asp
- gnomAD 11-119107842-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 23.40
- PolyPhen-2 0.14
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available