F33S (p.Phe33Ser) variant of SDHA (P31040)
F33S (p.Phe33Ser) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
F33S (p.Phe33Ser) variant details
- p.Phe33Ser
- rs1734831975
- ClinGen CA359008128
- ClinVar RCV001218025
- Ensembl rs1734831975
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.70
- MetaLR 0.37
- MetaSVM -0.29
- PolyPhen-2 0.03
- SIFT 0.02
- MutPred 0.66
- ClinVar: Uncertain significance (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Variant of uncertain significance (in dbSNP:rs1061518)
- UniProt: Uncertain significance (in dbSNP:rs1061518)
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. (PMID 24893135)