I31T (p.Ile31Thr) variant of ERCC5 (P28715)
I31T (p.Ile31Thr) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ovarian cancer; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
I31T (p.Ile31Thr) variant details
- p.Ile31Thr
- rs763654582
- ClinGen CA7041053
- ClinVar RCV003154774
- ClinVar RCV004887719
- Conflicting interpretations
- Ovarian cancer; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 26.90
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Ovarian cancer; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- 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)