F33L (p.Phe33Leu) variant of SDHA (P31040)
F33L (p.Phe33Leu) 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 0.41 / 1. The record also includes published literature and structural context.
F33L (p.Phe33Leu) variant details
- p.Phe33Leu
- rs1061518
- ClinGen CA359008126
- ClinVar RCV003802654
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.37
- MetaLR 0.28
- MetaSVM -0.69
- PolyPhen-2 0.00
- SIFT 0.04
- MutPred 0.34
- 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)