C10S (p.Cys10Ser) variant of ID3 (Q02535)
C10S (p.Cys10Ser) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
C10S (p.Cys10Ser) variant details
- p.Cys10Ser
- TOPMed rs1643691259
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.38
- MetaLR 0.32
- MetaSVM -0.63
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available