M1L (p.Met1Leu) variant of POLE (Q07864)
M1L (p.Met1Leu) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs878854847
- ClinGen CA10583037
- ClinVar RCV000231516
- ClinVar RCV000235594
- Pathogenic
- 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: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. (PMID 30503519)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)