R5W (p.Arg5Trp) variant of SDHA (P31040)
R5W (p.Arg5Trp) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- rs770866830
- ClinGen CA16612037
- ClinVar RCV000473159
- ClinVar RCV001011369
- Conflicting interpretations
- Dilated cardiomyopathy 1GG; Neurodegeneration with ataxia and late-onset optic a
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.14
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (Dilated cardiomyopathy 1GG; Neurodegeneration with ataxia and la)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)