K517E (p.Lys517Glu) variant of SDHA (P31040)
K517E (p.Lys517Glu) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K517E (p.Lys517Glu) variant details
- p.Lys517Glu
- rs786205210
- ClinGen CA358607
- ClinVar RCV000170440
- ClinVar RCV000231483
- Conflicting interpretations
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.65
- CADD 25.00
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- 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)