V41A (p.Val41Ala) variant of FANCD2 (Fanconi anemia group D2 protein)
V41A (p.Val41Ala) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V41A (p.Val41Ala) variant details
- p.Val41Ala
- rs139025231
- ClinGen CA2249110
- ClinVar RCV001368537
- ClinVar RCV002504610
- Uncertain significance
- Fanconi anemia; Fanconi anemia complementation group D2
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- CADD 5.49
- PolyPhen-2 0.24
- SIFT 0.78
- ClinVar: Uncertain significance (Fanconi anemia; Fanconi anemia complementation group D2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- 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)