R585W (p.Arg585Trp) variant of SDHA (P31040)
R585W (p.Arg585Trp) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dilated cardiomyopathy 1GG; Neurodegeneration with ataxia and late-onset optic a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R585W (p.Arg585Trp) variant details
- p.Arg585Trp
- rs200397144
- ClinGen CA188615
- NCI-TCGA Cosmic COSV5376
- cosmic curated COSV53768
- Pathogenic/Likely pathogenic
- Dilated cardiomyopathy 1GG; Neurodegeneration with ataxia and late-onset optic a
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.96
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Dilated cardiomyopathy 1GG; Neurodegeneration with ataxia and la)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and… (PMID 21752896)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)