V4A (p.Val4Ala) variant of SDHA (P31040)
V4A (p.Val4Ala) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu. 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.
V4A (p.Val4Ala) variant details
- p.Val4Ala
- rs1579369675
- ClinGen CA359007266
- ClinVar RCV002347167
- ClinVar RCV005215829
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.07
- AlphaMissense 0.08
- MetaLR 0.23
- MetaSVM -0.85
- CADD 11.00
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Mitochondrial complex I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-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)