S5G (p.Ser5Gly) variant of POLE (Q07864)
S5G (p.Ser5Gly) 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 0.30 / 1. The record also includes population frequency data and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- rs2043299375
- ClinGen CA387373525
- ClinVar RCV003656526
- ClinVar RCV004776303
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.04
- AlphaMissense 0.06
- MetaLR 0.00
- MetaSVM -0.89
- CADD 17.50
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available