S2P (p.Ser2Pro) variant of SDHA (P31040)
S2P (p.Ser2Pro) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- rs758327622
- ClinGen CA3172676
- ClinVar RCV001954520
- ClinVar RCV005271511
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.06
- AlphaMissense 0.08
- MetaLR 0.19
- MetaSVM -0.91
- CADD 22.30
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)