L51V (p.Leu51Val) variant of FANCA (Fanconi anemia group A protein)
L51V (p.Leu51Val) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L51V (p.Leu51Val) variant details
- p.Leu51Val
- rs1287320584
- ClinGen CA397483341
- ClinVar RCV002258492
- gnomAD rs1287320584
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.16
- CADD 23.40
- PolyPhen-2 0.82
- SIFT 0.01
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Likely benign
- UniProt: Likely benign
- 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)