G3A (p.Gly3Ala) variant of SDHA (P31040)
G3A (p.Gly3Ala) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1GG; Mitochondrial complex II deficiency, nuclear type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G3A (p.Gly3Ala) variant details
- p.Gly3Ala
- rs1398198098
- ClinGen CA359007252
- ClinVar RCV000703530
- ClinVar RCV002369948
- Uncertain significance
- Dilated cardiomyopathy 1GG; Mitochondrial complex II deficiency, nuclear type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.06
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1GG; Mitochondrial complex II deficiency,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)