A25T (p.Ala25Thr) variant of ID3 (Q02535)
A25T (p.Ala25Thr) in ID3 (Q02535) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- rs201368186
- 1000Genomes rs201368186
- ExAC rs201368186
- TOPMed rs201368186
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.29
- MetaLR 0.41
- MetaSVM -0.10
- CADD 24.70
- PolyPhen-2 0.51
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)