G555E (p.Gly555Glu) variant of SDHA (P31040)
G555E (p.Gly555Glu) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G555E (p.Gly555Glu) variant details
- p.Gly555Glu
- rs137852768
- ClinGen CA119883
- ClinVar RCV000009284
- ClinVar RCV000009286
- Pathogenic
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.91
- CADD 33.00
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Pathogenic (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Pathogenic (in MC2DN1 and CMD1GG)
- UniProt: Pathogenic (in MC2DN1 and CMD1GG)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory… (PMID 12794685)
- Cited in: Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. (PMID 16798039)