S541R (p.Ser541Arg) variant of ERCC2 (P18074)
S541R (p.Ser541Arg) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Xeroderma pigmentosum; Trichothiodystrophy 1, photosensitive; Cerebrooculofacios. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S541R (p.Ser541Arg) variant details
- p.Ser541Arg
- rs121913019
- ClinGen CA257626
- ClinVar RCV000018272
- ClinVar RCV005887538
- Likely pathogenic
- Xeroderma pigmentosum; Trichothiodystrophy 1, photosensitive; Cerebrooculofacios
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.96
- CADD 28.50
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Likely pathogenic (Xeroderma pigmentosum; Trichothiodystrophy 1, photosensitive; Ce)
- EBI: Pathogenic (in XP-D)
- UniProt: Pathogenic (in XP-D)
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Cited in: Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. (PMID 9101292)
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)