R16P (p.Arg16Pro) variant of FH (P07954)
R16P (p.Arg16Pro) in FH (P07954) 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 0.64 / 1. The record also includes published literature and structural context.
R16P (p.Arg16Pro) variant details
- p.Arg16Pro
- rs762310232
- ClinGen CA345442957
- ClinVar RCV001023079
- ExAC rs762310232
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- AlphaMissense 0.09
- MetaLR 0.88
- MetaSVM 0.76
- PolyPhen-2 0.00
- SIFT 0.06
- MutPred 0.21
- ClinVar: Uncertain significance (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)