A13D (p.Ala13Asp) variant of SDHA (P31040)
A13D (p.Ala13Asp) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A13D (p.Ala13Asp) variant details
- p.Ala13Asp
- rs2477252136
- ClinGen CA359007357
- ClinVar RCV003801877
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.14
- CADD 4.13
- PolyPhen-2 0.00
- SIFT 0.61
- 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: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. (PMID 24893135)