A40V (p.Ala40Val) variant of FANCA (Fanconi anemia group A protein)
A40V (p.Ala40Val) 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 Inborn genetic diseases; Fanconi anemia; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs563060518
- ClinGen CA397483528
- ClinVar RCV001318609
- ClinVar RCV002493667
- Uncertain significance
- Inborn genetic diseases; Fanconi anemia; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0547
- REVEL 0.05
- CADD 0.79
- PolyPhen-2 0.02
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases; Fanconi anemia; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)