P13A (p.Pro13Ala) variant of FH (P07954)
P13A (p.Pro13Ala) 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; Hereditary leiomyomatosis and renal cel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P13A (p.Pro13Ala) variant details
- p.Pro13Ala
- rs587778360
- ClinGen CA159734
- ClinVar RCV000121087
- ClinVar RCV002354305
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary leiomyomatosis and renal cel
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.36
- CADD 1.54
- PolyPhen-2 0.00
- SIFT 0.96
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary leiomyomatos)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 8.4e-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)