A31T (p.Ala31Thr) variant of FH (P07954)
A31T (p.Ala31Thr) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- rs2147926921
- ClinGen CA345442732
- ClinVar RCV002371237
- Ensembl rs2147926921
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.28
- CADD 5.80
- PolyPhen-2 0.02
- SIFT 0.32
- ClinVar: Uncertain significance (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)