A11P (p.Ala11Pro) variant of POLE (Q07864)
A11P (p.Ala11Pro) 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 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A11P (p.Ala11Pro) variant details
- p.Ala11Pro
- rs1593099072
- ClinGen CA387373437
- ClinVar RCV003656809
- ClinVar RCV004036265
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0764
- REVEL 0.03
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-05)
- 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)