P18A (p.Pro18Ala) variant of FH (P07954)
P18A (p.Pro18Ala) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
P18A (p.Pro18Ala) variant details
- p.Pro18Ala
- rs1660321288
- ClinGen CA345442941
- ClinVar RCV002350561
- ClinVar RCV002543525
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- AlphaMissense 0.07
- MetaLR 0.88
- MetaSVM 0.59
- PolyPhen-2 0.02
- SIFT 0.21
- MutPred 0.35
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)