F99S (p.Phe99Ser) variant of ERCC3 (P19447)
F99S (p.Phe99Ser) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Trichothiodystrophy 2, photosensitive; Xeroderma pigmentosum group B. 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.
F99S (p.Phe99Ser) variant details
- p.Phe99Ser
- rs121913045
- ClinGen CA257543
- ClinVar RCV000018051
- ClinVar RCV005025066
- Pathogenic
- Trichothiodystrophy 2, photosensitive; Xeroderma pigmentosum group B
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Trichothiodystrophy 2, photosensitive; Xeroderma pigmentosum gro)
- EBI: Pathogenic (in XP-B)
- UniProt: Pathogenic (in XP-B)
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available
- Cited in: Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. (PMID 16947863)
- Cited in: Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision… (PMID 17466626)