A25S (p.Ala25Ser) variant of ID3 (Q02535)
A25S (p.Ala25Ser) 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 0.42 / 1. The record also includes population frequency data.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- 1000Genomes rs201368186
- ExAC rs201368186
- TOPMed rs201368186
- gnomAD rs201368186
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.28
- MetaLR 0.16
- MetaSVM -0.84
- CADD 16.80
- PolyPhen-2 0.15
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)