Q185H (p.Gln185His) variant of XPA (P23025)
Q185H (p.Gln185His) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of XPA-related disorder; not provided; Xeroderma pigmentosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Q185H (p.Gln185His) variant details
- p.Gln185His
- rs746617574
- ClinGen CA196751062
- ClinVar RCV000665444
- ClinVar RCV001174635
- Pathogenic/Likely pathogenic
- XPA-related disorder; not provided; Xeroderma pigmentosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.64
- CADD 33.00
- PolyPhen-2 0.25
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (XPA-related disorder; not provided; Xeroderma pigmentosum)
- EBI: Pathogenic (in XP-A)
- UniProt: Pathogenic (in XP-A)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- 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: Xeroderma Pigmentosum. (PMID 20301571)