D12G (p.Asp12Gly) variant of POLE (Q07864)
D12G (p.Asp12Gly) 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 0.18 / 1. The record also includes population frequency data and structural context.
D12G (p.Asp12Gly) variant details
- p.Asp12Gly
- rs2136052132
- ClinGen CA387373415
- ClinVar RCV003658207
- Ensembl rs2136052132
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.04
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available