L70R (p.Leu70Arg) variant of FANCC (Fanconi anemia group C protein)
L70R (p.Leu70Arg) 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 Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L70R (p.Leu70Arg) variant details
- p.Leu70Arg
- rs150174412
- ClinGen CA5137803
- ClinVar RCV002424182
- ESP rs150174412
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.55
- AlphaMissense 0.69
- MetaLR 0.35
- MetaSVM -0.07
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)