M1V (p.Met1Val) variant of POLE (Q07864)
M1V (p.Met1Val) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs878854847
- ClinGen CA16613761
- ClinVar RCV000462229
- ClinVar RCV000573016
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- MetaLR 0.01
- MetaSVM -0.96
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.87
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)