R616Q (p.Arg616Gln) variant of ERCC2 (P18074)
R616Q (p.Arg616Gln) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal syndrome 2; Xer. 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.
R616Q (p.Arg616Gln) variant details
- p.Arg616Gln
- rs376556895
- ClinGen CA308951355
- ClinVar RCV001292729
- ClinVar RCV001780237
- Conflicting interpretations
- Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal syndrome 2; Xer
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.91
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal)
- EBI: Pathogenic (in XP-D and COFS2)
- UniProt: Pathogenic (in XP-D and COFS2)
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)