P13A (p.Pro13Ala) variant of POLE (Q07864)
P13A (p.Pro13Ala) 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 0.28 / 1. The record also includes structural context.
P13A (p.Pro13Ala) variant details
- p.Pro13Ala
- rs747831153
- ClinGen CA387373405
- ClinVar RCV003656352
- ExAC rs747831153
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- AlphaMissense 0.05
- MetaLR 0.01
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 0.30
- MutPred 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available