W22R (p.Trp22Arg) variant of SDHA (P31040)
W22R (p.Trp22Arg) 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 0.32 / 1. The record also includes published literature and structural context.
W22R (p.Trp22Arg) variant details
- p.Trp22Arg
- rs2126539375
- ClinGen CA359008059
- ClinVar RCV002033210
- Ensembl rs2126539375
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- AlphaMissense 0.19
- MetaLR 0.11
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.39
- MutPred 0.54
- ClinVar: Uncertain significance (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. (PMID 24893135)