A17P (p.Ala17Pro) variant of FH (P07954)
A17P (p.Ala17Pro) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A17P (p.Ala17Pro) variant details
- p.Ala17Pro
- rs755886213
- ClinGen CA1478780
- ClinVar RCV000563316
- ClinVar RCV002528981
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.38
- CADD 6.24
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.2e-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)