S5C (p.Ser5Cys) variant of POLE (Q07864)
S5C (p.Ser5Cys) 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 0.27 / 1. The record also includes structural context.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- rs2043299375
- ClinGen CA387373528
- ClinVar RCV003771105
- Ensembl rs2043299375
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- AlphaMissense 0.06
- MetaLR 0.00
- MetaSVM -0.89
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available