A31S (p.Ala31Ser) variant of POLE (Q07864)
A31S (p.Ala31Ser) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- rs34047482
- ClinGen CA349719
- ClinVar RCV000205587
- ClinVar RCV000433484
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.20
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.24
- EBI: Benign (in dbSNP:rs34047482)
- UniProt: Benign (in dbSNP:rs34047482)
- Most common in the HGDP:ORCADIAN population (allele frequency 0.071)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)