G675R (p.Gly675Arg) variant of ERCC2 (P18074)
G675R (p.Gly675Arg) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cerebrooculofacioskeletal syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G675R (p.Gly675Arg) variant details
- p.Gly675Arg
- rs2513999160
- ClinGen CA406362835
- ClinVar RCV003467929
- ClinVar RCV003553951
- Pathogenic/Likely pathogenic
- not provided; Cerebrooculofacioskeletal syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.93
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cerebrooculofacioskeletal syndrome 2)
- EBI: Pathogenic (in XP-D/CS)
- UniProt: Pathogenic (in XP-D/CS)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D… (PMID 7825573)