G17A (p.Gly17Ala) variant of POLE (Q07864)
G17A (p.Gly17Ala) 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 structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- rs2043297640
- ClinGen CA387373338
- ClinVar RCV003656861
- Ensembl rs2043297640
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.97
- PolyPhen-2 0.00
- SIFT 0.61
- MutPred 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available