A21D (p.Ala21Asp) variant of C2CD2L (O14523)
A21D (p.Ala21Asp) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- gnomAD 11-119107803-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 26.30
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available