V4D (p.Val4Asp) variant of SDHA (P31040)
V4D (p.Val4Asp) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
V4D (p.Val4Asp) variant details
- p.Val4Asp
- rs1579369675
- ClinGen CA359007262
- ClinVar RCV003805691
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.08
- MetaLR 0.23
- MetaSVM -0.85
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.28
- ClinVar: Uncertain significance (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. (PMID 24893135)