C10W (p.Cys10Trp) variant of ID3 (Q02535)
C10W (p.Cys10Trp) in ID3 (Q02535) 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.
C10W (p.Cys10Trp) variant details
- p.Cys10Trp
- gnomAD 1-23559397-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.52
- MetaLR 0.44
- MetaSVM -0.10
- CADD 28.30
- PolyPhen-2 0.84
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available