A524V (p.Ala524Val) variant of SDHA (P31040)
A524V (p.Ala524Val) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A524V (p.Ala524Val) variant details
- p.Ala524Val
- rs137852767
- ClinGen CA119880
- ClinVar RCV000009282
- ClinVar RCV000520939
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Mitochondrial complex II deficiency, nu
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- AlphaMissense 0.95
- MetaLR 0.75
- MetaSVM 0.87
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Mitochondrial complex I)
- EBI: Pathogenic (in LS)
- UniProt: Pathogenic (in LS)
- Population evidence available
- Structural context available
- Cited in: Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh… (PMID 10746566)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)