A25D (p.Ala25Asp) variant of FH (P07954)
A25D (p.Ala25Asp) 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 0.65 / 1. The record also includes published literature and structural context.
A25D (p.Ala25Asp) variant details
- p.Ala25Asp
- rs1573889933
- ClinGen CA345442822
- ClinVar RCV003339130
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- AlphaMissense 0.09
- MetaLR 0.88
- MetaSVM 0.85
- PolyPhen-2 0.00
- SIFT 0.10
- MutPred 0.12
- 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)