R658H (p.Arg658His) variant of ERCC2 (P18074)
R658H (p.Arg658His) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cerebrooculofacioskeletal syndrome 2; not provided. 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.
R658H (p.Arg658His) variant details
- p.Arg658His
- rs762141272
- ClinGen CA9512956
- cosmic curated COSV10972
- ClinVar RCV002010563
- Pathogenic/Likely pathogenic
- Cerebrooculofacioskeletal syndrome 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.93
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cerebrooculofacioskeletal syndrome 2; not provided)
- EBI: Pathogenic (in TTD1 and XP-D)
- UniProt: Pathogenic (in TTD1 and XP-D)
- Population evidence available
- Structural context available
- Cited in: Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision… (PMID 17466626)
- Cited in: The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. (PMID 11156600)