A32T (p.Ala32Thr) variant of FH (P07954)
A32T (p.Ala32Thr) 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; FH-related disorder; 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.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- rs1371664717
- ClinGen CA345442725
- ClinVar RCV001019431
- ClinVar RCV003769514
- Uncertain significance
- not provided; FH-related disorder; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.37
- AlphaMissense 0.09
- MetaLR 0.87
- MetaSVM 0.64
- CADD 11.80
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (not provided; FH-related disorder; Hereditary cancer-predisposin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-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)