M48V (p.Met48Val) variant of FANCC (Fanconi anemia group C protein)
M48V (p.Met48Val) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
M48V (p.Met48Val) variant details
- p.Met48Val
- rs1831171942
- ClinGen CA374340241
- ClinVar RCV002392020
- Ensembl rs1831171942
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.04
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.22
- 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 9e-07)
- 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)