R12C (p.Arg12Cys) variant of FH (P07954)
R12C (p.Arg12Cys) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FH-related disorder; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R12C (p.Arg12Cys) variant details
- p.Arg12Cys
- rs199912971
- ClinGen CA40338059
- ClinVar RCV002339199
- ClinVar RCV002551468
- Uncertain significance
- FH-related disorder; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.43
- AlphaMissense 0.11
- MetaLR 0.89
- MetaSVM 0.77
- CADD 17.80
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (FH-related disorder; Hereditary cancer-predisposing syndrome; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)