P94L (p.Pro94Leu) variant of XPA (P23025)
P94L (p.Pro94Leu) in XPA (P23025) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XP-A. The record also includes published literature and structural context.
P94L (p.Pro94Leu) variant details
- p.Pro94Leu
- UniProt VAR 007727
- Pathogenic
- in XP-A
- Missense
- EBI: Pathogenic (in XP-A)
- UniProt: Pathogenic (in XP-A)
- Structural context available
- Cited in: The Japan Society of Human Genetics Award Lecture. Molecular analysis of xeroderma pigmentosum group A gene. (PMID 8504220)
- Cited in: A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. (PMID 10447254)