A11S (p.Ala11Ser) variant of POLE (Q07864)
A11S (p.Ala11Ser) in POLE (Q07864) 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 0.06 / 1. The record also includes population frequency data and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- rs1593099072
- ClinGen CA387373435
- ClinVar RCV003772478
- TOPMed rs1593099072
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0579
- REVEL 0.01
- CADD 5.82
- PolyPhen-2 0.01
- SIFT 0.74
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available