P13S (p.Pro13Ser) variant of POLE (Q07864)
P13S (p.Pro13Ser) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- rs747831153
- ClinGen CA6894470
- ClinVar RCV003656545
- ClinVar RCV005463297
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.02
- AlphaMissense 0.05
- MetaLR 0.01
- MetaSVM -0.91
- CADD 8.68
- PolyPhen-2 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00011)
- 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)