G6V (p.Gly6Val) variant of SDHA (P31040)
G6V (p.Gly6Val) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- rs187964306
- ClinGen CA3172684
- ClinVar RCV001053064
- ClinVar RCV002409443
- Uncertain significance
- not provided; Pheochromocytoma/paraganglioma syndrome 5; Mitochondrial complex I
- Missense
- Variant Prioritization Score for Impact Estimate 0.0779
- REVEL 0.08
- CADD 1.87
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not provided; Pheochromocytoma/paraganglioma syndrome 5; Mitocho)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 7.7e-05)
- 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)