R601L (p.Arg601Leu) variant of ERCC2 (P18074)
R601L (p.Arg601Leu) 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; Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R601L (p.Arg601Leu) variant details
- p.Arg601Leu
- rs140522180
- ClinGen CA9513074
- ClinVar RCV003317740
- ClinVar RCV003459829
- Pathogenic/Likely pathogenic
- not provided; Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.74
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cerebrooculofacioskeletal syndrome 2; Xeroderma pi)
- EBI: Pathogenic (in XP-D)
- UniProt: Pathogenic (in XP-D)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. (PMID 11156600)
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)