A717G (p.Ala717Gly) variant of ERCC2 (P18074)
A717G (p.Ala717Gly) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified; ERCC2-relate. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A717G (p.Ala717Gly) variant details
- p.Ala717Gly
- rs144564120
- ClinGen CA158773
- cosmic curated COSV10943
- ClinVar RCV000120774
- Pathogenic
- Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified; ERCC2-relate
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.58
- CADD 28.10
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Pathogenic (Xeroderma pigmentosum)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.0017)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)