G6V (p.Gly6Val) variant of POLE (Q07864)
G6V (p.Gly6Val) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- rs772972882
- ClinGen CA387373498
- ClinVar RCV003657559
- ExAC rs772972882
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.01
- AlphaMissense 0.11
- MetaLR 0.01
- MetaSVM -0.92
- CADD 8.38
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available