G260R (p.Gly260Arg) variant of SDHA (P31040)
G260R (p.Gly260Arg) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodegeneration with ataxia and late-onset optic atrophy; Hereditary cancer-pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G260R (p.Gly260Arg) variant details
- p.Gly260Arg
- rs940845256
- ClinGen CA359011535
- ClinVar RCV001377775
- ClinVar RCV001836652
- Pathogenic/Likely pathogenic
- Neurodegeneration with ataxia and late-onset optic atrophy; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.84
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Neurodegeneration with ataxia and late-onset optic atrophy; Here)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)