A32S (p.Ala32Ser) variant of FH (P07954)
A32S (p.Ala32Ser) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- rs1371664717
- ClinGen CA345442723
- ClinVar RCV000569300
- ClinVar RCV002530338
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.38
- AlphaMissense 0.09
- MetaLR 0.87
- MetaSVM 0.64
- CADD 11.00
- PolyPhen-2 0.01
- 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 1.9e-06)
- 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)