D12N (p.Asp12Asn) variant of POLE (Q07864)
D12N (p.Asp12Asn) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D12N (p.Asp12Asn) variant details
- p.Asp12Asn
- rs1355767159
- ClinGen CA387373426
- ClinVar RCV001557430
- ClinVar RCV002477449
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.06
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.41
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.3e-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)