R616P (p.Arg616Pro) variant of ERCC2 (P18074)
R616P (p.Arg616Pro) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; Inborn genetic diseases; Xeroderma pigm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R616P (p.Arg616Pro) variant details
- p.Arg616Pro
- rs376556895
- ClinGen CA9513025
- cosmic curated COSV67268
- ClinVar RCV000312948
- Pathogenic
- Hereditary cancer-predisposing syndrome; Inborn genetic diseases; Xeroderma pigm
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.92
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; Inborn genetic diseases)
- EBI: Pathogenic (in XP-D and TTD1)
- UniProt: Pathogenic (in XP-D and TTD1)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. (PMID 7920640)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)