C16F (p.Cys16Phe) variant of ID3 (Q02535)
C16F (p.Cys16Phe) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
C16F (p.Cys16Phe) variant details
- p.Cys16Phe
- gnomAD 1-23559380-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.70
- MetaLR 0.45
- MetaSVM -0.01
- CADD 24.70
- PolyPhen-2 0.49
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available