L817P (p.Leu817Pro) variant of FANCA (Fanconi anemia group A protein)
L817P (p.Leu817Pro) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L817P (p.Leu817Pro) variant details
- p.Leu817Pro
- rs1307805145
- ClinGen CA397443331
- ClinVar RCV001256272
- UniProt VAR 009647
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.54
- CADD 22.80
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic (in FANCA)
- UniProt: Pathogenic (in FANCA)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Sequence variation in the Fanconi anemia gene FAA. (PMID 9371798)
- Cited in: Fanconi Anemia. (PMID 20301575)