L71F (p.Leu71Phe) variant of FANCC (Fanconi anemia group C protein)
L71F (p.Leu71Phe) in FANCC (Fanconi anemia group C 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 0.49 / 1. The record also includes published literature and structural context.
L71F (p.Leu71Phe) variant details
- p.Leu71Phe
- rs2136091002
- ClinGen CA374340069
- ClinVar RCV001354638
- ClinVar RCV001871922
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.26
- MetaLR 0.35
- MetaSVM -0.43
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.72
- 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)