R616W (p.Arg616Trp) variant of ERCC2 (P18074)
R616W (p.Arg616Trp) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal syndrome 2; Xer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R616W (p.Arg616Trp) variant details
- p.Arg616Trp
- rs121913024
- ClinGen CA126891
- cosmic curated COSV67266
- ClinVar RCV000018278
- Pathogenic/Likely pathogenic
- Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal syndrome 2; Xer
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal)
- EBI: Pathogenic (in XP-D and COFS2)
- UniProt: Pathogenic (in XP-D and COFS2)
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available
- Cited in: Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal… (PMID 11443545)
- Cited in: Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2)… (PMID 9238033)