D2N (p.Asp2Asn) variant of C2CD2L (O14523)
D2N (p.Asp2Asn) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- gnomAD 11-119107745-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.07
- ESM-1b 0.17
- AlphaMissense 0.15
- CADD 24.50
- PolyPhen-2 0.18
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available