N40K (p.Asn40Lys) variant of FH (P07954)
N40K (p.Asn40Lys) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
N40K (p.Asn40Lys) variant details
- p.Asn40Lys
- rs876658186
- ClinGen CA40337913
- ClinVar RCV001010297
- ClinVar RCV001037079
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.23
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.33
- 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 4.8e-05)
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)