D9N (p.Asp9Asn) variant of C2CD2L (O14523)
D9N (p.Asp9Asn) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D9N (p.Asp9Asn) variant details
- p.Asp9Asn
- gnomAD 11-119107766-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.11
- ESM-1b 0.62
- AlphaMissense 0.19
- CADD 27.80
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available