M1T (p.Met1Thr) variant of FANCD2 (Fanconi anemia group D2 protein)
M1T (p.Met1Thr) 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 0.43 / 1. The record also includes published literature.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2086516483
- ClinGen CA351715333
- ClinVar RCV001194913
- ClinVar RCV005094034
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- MetaLR 0.33
- MetaSVM -0.34
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)