Q4P (p.Gln4Pro) variant of ERCC5 (P28715)
Q4P (p.Gln4Pro) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ovarian cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Q4P (p.Gln4Pro) variant details
- p.Gln4Pro
- rs2501509040
- ClinGen CA388565039
- ClinVar RCV003154765
- Likely pathogenic
- Ovarian cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 30.00
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Likely pathogenic (Ovarian cancer)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. (PMID 22964825)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)