I47V (p.Ile47Val) variant of FANCD2 (Fanconi anemia group D2 protein)
I47V (p.Ile47Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
I47V (p.Ile47Val) variant details
- p.Ile47Val
- rs760450030
- ClinGen CA2249115
- ClinVar RCV003078425
- ExAC rs760450030
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.079
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)