P13L (p.Pro13Leu) variant of POLE (Q07864)
P13L (p.Pro13Leu) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- rs878854865
- ClinGen CA10583036
- ClinVar RCV003133194
- ClinVar RCV006424604
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.05
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.72
- CADD 15.60
- PolyPhen-2 0.74
- EBI: Likely benign
- UniProt: Likely benign
- 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)