L453P (p.Leu453Pro) variant of FH (P07954)
L453P (p.Leu453Pro) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Fumarase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
L453P (p.Leu453Pro) variant details
- p.Leu453Pro
- rs2147913041
- ClinGen CA345436410
- ClinVar RCV001781104
- ClinVar RCV004556087
- Pathogenic/Likely pathogenic
- Fumarase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (Fumarase deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)