L70P (p.Leu70Pro) variant of FANCC (Fanconi anemia group C protein)
L70P (p.Leu70Pro) 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 not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
L70P (p.Leu70Pro) variant details
- p.Leu70Pro
- rs150174412
- ClinGen CA374340076
- ClinVar RCV004520526
- ClinVar RCV006259568
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.69
- MetaLR 0.35
- MetaSVM -0.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)