A20P (p.Ala20Pro) variant of FH (P07954)
A20P (p.Ala20Pro) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- rs572324497
- ClinGen CA345442920
- ClinVar RCV002355701
- ClinVar RCV003098046
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- AlphaMissense 0.11
- MetaLR 0.86
- MetaSVM 0.83
- PolyPhen-2 0.04
- SIFT 0.59
- MutPred 0.21
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)