T119P (p.Thr119Pro) variant of ERCC3 (P19447)
T119P (p.Thr119Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
T119P (p.Thr119Pro) variant details
- p.Thr119Pro
- rs121913046
- ClinGen CA126690
- ClinVar RCV000018052
- UniProt VAR 008186
- Pathogenic
- Trichothiodystrophy 2, photosensitive
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.74
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Trichothiodystrophy 2, photosensitive)
- EBI: Pathogenic (in TTD2)
- UniProt: Pathogenic (in TTD2)
- 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: A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. (PMID 9012405)