D42N (p.Asp42Asn) variant of POLE (Q07864)
D42N (p.Asp42Asn) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
D42N (p.Asp42Asn) variant details
- p.Asp42Asn
- rs2136034354
- ClinGen CA387370213
- NCI-TCGA Cosmic COSV5768
- cosmic curated COSV57684
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 0.69
- MetaLR 0.08
- MetaSVM -1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)