L50P (p.Leu50Pro) variant of FANCA (Fanconi anemia group A protein)
L50P (p.Leu50Pro) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L50P (p.Leu50Pro) variant details
- p.Leu50Pro
- rs2143723758
- ClinGen CA397483347
- ClinVar RCV002024830
- Ensembl rs2143723758
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.47
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)