M1T (p.Met1Thr) variant of FANCC (Fanconi anemia group C protein)
M1T (p.Met1Thr) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Fanconi anemia complementation group C; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2136102345
- ClinGen CA374340550
- ClinVar RCV001781081
- ClinVar RCV005057617
- Conflicting interpretations
- Fanconi anemia complementation group C; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- MetaLR 0.40
- MetaSVM -0.16
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- ClinVar: Conflicting classifications of pathogenicity (Fanconi anemia complementation group C; Fanconi anemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)