P39L (p.Pro39Leu) variant of FH (P07954)
P39L (p.Pro39Leu) 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; Fumarase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- rs1415259326
- ClinGen CA345442654
- ClinVar RCV002331543
- ClinVar RCV002569223
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Fumarase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.40
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Fumarase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)