S11* (p.Ser11Ter) variant of FH (P07954)
S11* (p.Ser11Ter) in FH (P07954) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
S11* (p.Ser11Ter) variant details
- p.Ser11Ter
- rs1226883651
- ClinGen CA345443022
- ClinVar RCV003461572
- ClinVar RCV006473228
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.668
- AlphaMissense 0.21
- MetaLR 0.88
- MetaSVM 0.71
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.21
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)