V4G (p.Val4Gly) variant of SDHA (P31040)
V4G (p.Val4Gly) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraganglioma syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V4G (p.Val4Gly) variant details
- p.Val4Gly
- rs1579369675
- ClinGen CA359007268
- cosmic curated COSV53773
- ClinVar RCV001010277
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraganglioma syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.10
- AlphaMissense 0.08
- MetaLR 0.23
- MetaSVM -0.85
- CADD 17.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraga)
- 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)