A25P (p.Ala25Pro) variant of FH (P07954)
A25P (p.Ala25Pro) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A25P (p.Ala25Pro) variant details
- p.Ala25Pro
- rs999146815
- ClinGen CA40337987
- ClinVar RCV003880673
- ClinVar RCV004621944
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.40
- CADD 9.89
- PolyPhen-2 0.04
- SIFT 0.22
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)