G27A (p.Gly27Ala) variant of FH (P07954)
G27A (p.Gly27Ala) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G27A (p.Gly27Ala) variant details
- p.Gly27Ala
- rs1339215584
- ClinGen CA345442784
- ClinVar RCV002422500
- ClinVar RCV002532214
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.42
- CADD 9.13
- PolyPhen-2 0.02
- SIFT 0.40
- 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 1.5e-05)
- 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)