P13S (p.Pro13Ser) variant of FH (P07954)
P13S (p.Pro13Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- rs587778360
- ClinGen CA10577692
- ClinVar RCV000217403
- ClinVar RCV002518291
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.33
- CADD 3.45
- PolyPhen-2 0.00
- SIFT 0.90
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.8e-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)