C16S (p.Cys16Ser) variant of ID3 (Q02535)
C16S (p.Cys16Ser) 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.
C16S (p.Cys16Ser) variant details
- p.Cys16Ser
- gnomAD 1-23559381-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.47
- MetaLR 0.24
- MetaSVM -0.73
- CADD 21.30
- PolyPhen-2 0.06
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available