R3P (p.Arg3Pro) variant of FH (P07954)
R3P (p.Arg3Pro) in FH (P07954) 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 0.70 / 1. The record also includes published literature and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- rs1573890051
- ClinGen CA345443104
- ClinVar RCV001018625
- ClinVar RCV002549481
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- AlphaMissense 0.20
- MetaLR 0.91
- MetaSVM 0.93
- PolyPhen-2 0.17
- SIFT 0.01
- MutPred 0.25
- 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)