T724P (p.Thr724Pro) variant of FANCA (Fanconi anemia group A protein)
T724P (p.Thr724Pro) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T724P (p.Thr724Pro) variant details
- p.Thr724Pro
- rs2039290343
- ClinGen CA397447351
- ClinVar RCV001256588
- Ensembl rs2039290343
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.81
- CADD 26.30
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)