S222P (p.Ser222Pro) variant of FH (P07954)
S222P (p.Ser222Pro) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fumarase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
S222P (p.Ser222Pro) variant details
- p.Ser222Pro
- rs1448268784
- ClinGen CA345439287
- ClinVar RCV001775239
- TOPMed rs1448268784
- Likely pathogenic
- Fumarase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- AlphaMissense 0.12
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 0.16
- SIFT 0.11
- EVE 0.22
- ClinVar: Likely pathogenic (Fumarase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)