L908P (p.Leu908Pro) variant of FANCA (Fanconi anemia group A protein)
L908P (p.Leu908Pro) 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 0.77 / 1. The record also includes published literature and structural context.
L908P (p.Leu908Pro) variant details
- p.Leu908Pro
- rs2039075542
- ClinGen CA397438152
- cosmic curated COSV59795
- ClinVar RCV001256598
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.51
- MetaLR 0.76
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)