P38L (p.Pro38Leu) variant of FH (P07954)
P38L (p.Pro38Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- rs2147926864
- ClinGen CA345442660
- ClinVar RCV002561380
- ClinVar RCV005614726
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- AlphaMissense 0.09
- MetaLR 0.88
- MetaSVM 0.89
- PolyPhen-2 0.00
- SIFT 0.71
- MutPred 0.35
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)