S15T (p.Ser15Thr) variant of FANCD2 (Fanconi anemia group D2 protein)
S15T (p.Ser15Thr) 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 0.32 / 1. The record also includes published literature and structural context.
S15T (p.Ser15Thr) variant details
- p.Ser15Thr
- rs2086517762
- ClinGen CA351715796
- ClinVar RCV003029802
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- AlphaMissense 0.06
- MetaLR 0.07
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.33
- MutPred 0.14
- ClinVar: Uncertain significance (Fanconi anemia)
- 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)