R43P (p.Arg43Pro) variant of FH (P07954)
R43P (p.Arg43Pro) 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 0.67 / 1. The record also includes published literature and structural context.
R43P (p.Arg43Pro) variant details
- p.Arg43Pro
- rs2147926825
- ClinGen CA345442623
- ClinVar RCV003165111
- Ensembl rs2147926825
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- AlphaMissense 0.17
- MetaLR 0.90
- MetaSVM 0.95
- PolyPhen-2 0.05
- SIFT 0.02
- MutPred 0.43
- 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)