L324P (p.Leu324Pro) variant of FANCA (Fanconi anemia group A protein)
L324P (p.Leu324Pro) 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 complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
L324P (p.Leu324Pro) variant details
- p.Leu324Pro
- rs1447363475
- ClinGen CA397469938
- ClinVar RCV002286879
- Likely pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- AlphaMissense 0.81
- MetaLR 0.49
- MetaSVM 0.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Fanconi anemia complementation group A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)