D12V (p.Asp12Val) variant of FANCD2 (Fanconi anemia group D2 protein)
D12V (p.Asp12Val) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia; Fanconi anemia complementation group D2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
D12V (p.Asp12Val) variant details
- p.Asp12Val
- rs2086517367
- ClinGen CA351715704
- ClinVar RCV001294045
- ClinVar RCV001859241
- Uncertain significance
- Fanconi anemia; Fanconi anemia complementation group D2
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.09
- MetaLR 0.10
- MetaSVM -0.94
- PolyPhen-2 0.03
- SIFT 0.01
- MutPred 0.17
- ClinVar: Uncertain significance (Fanconi anemia; Fanconi anemia complementation group D2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)