H1110P (p.His1110Pro) variant of FANCA (Fanconi anemia group A protein)
H1110P (p.His1110Pro) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi anemia; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
H1110P (p.His1110Pro) variant details
- p.His1110Pro
- rs752837228
- ClinGen CA397486219
- ClinVar RCV001256613
- UniProt VAR 009650
- Likely pathogenic
- Fanconi anemia; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.10
- MetaLR 0.52
- MetaSVM -0.06
- PolyPhen-2 0.84
- SIFT 0.04
- EVE 0.61
- ClinVar: Likely pathogenic (Fanconi anemia; Fanconi anemia complementation group A)
- EBI: Pathogenic (in FANCA)
- UniProt: Pathogenic (in FANCA)
- Structural context available
- Cited in: A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation. (PMID 10210316)
- Cited in: High frequency of large intragenic deletions in the Fanconi anemia group A gene. (PMID 10521298)