C47W (p.Cys47Trp) variant of ID3 (Q02535)
C47W (p.Cys47Trp) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
C47W (p.Cys47Trp) variant details
- p.Cys47Trp
- ExAC rs767879343
- gnomAD rs767879343
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.91
- MetaLR 0.96
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available