A25P (p.Ala25Pro) variant of ID3 (Q02535)
A25P (p.Ala25Pro) in ID3 (Q02535) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
A25P (p.Ala25Pro) variant details
- p.Ala25Pro
- 1000Genomes rs201368186
- ExAC rs201368186
- TOPMed rs201368186
- gnomAD rs201368186
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.38
- MetaLR 0.54
- MetaSVM 0.11
- CADD 25.50
- PolyPhen-2 0.94
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)