G47R (p.Gly47Arg) variant of ERCC2 (P18074)
G47R (p.Gly47Arg) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- rs1360631927
- ClinGen CA406379545
- cosmic curated COSV55541
- ClinVar RCV001531476
- Pathogenic
- not provided; Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.96
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Cerebrooculofacioskeletal syndrome 2; Xeroderma pi)
- EBI: Pathogenic (in XP-D)
- UniProt: Pathogenic (in XP-D)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2)… (PMID 9238033)
- Cited in: A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. (PMID 10447254)