G3R (p.Gly3Arg) variant of SDHA (P31040)
G3R (p.Gly3Arg) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G3R (p.Gly3Arg) variant details
- p.Gly3Arg
- rs756415935
- ClinGen CA3172679
- cosmic curated COSV53767
- ClinVar RCV002419173
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.06
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.9e-05)
- 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)