V49G (p.Val49Gly) variant of FANCD2 (Fanconi anemia group D2 protein)
V49G (p.Val49Gly) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V49G (p.Val49Gly) variant details
- p.Val49Gly
- rs780343756
- ClinGen CA2249119
- ClinVar RCV000687164
- ExAC rs780343756
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.19
- MetaLR 0.19
- MetaSVM -0.88
- PolyPhen-2 0.37
- SIFT 0.11
- EVE 0.32
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)