R511Q (p.Arg511Gln) variant of ERCC2 (P18074)
R511Q (p.Arg511Gln) 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; Xeroderma pigmentosum; Xeroderma pigmentos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R511Q (p.Arg511Gln) variant details
- p.Arg511Gln
- rs772572683
- NCI-TCGA Cosmic COSV6726
- cosmic curated COSV67264
- ClinVar RCV004576392
- Pathogenic/Likely pathogenic
- Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum; Xeroderma pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.91
- CADD 29.50
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum; Xer)
- EBI: Pathogenic (in XP-D)
- UniProt: Pathogenic (in XP-D)
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- 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)