M1? variant of SDHA (P31040)
M1? in SDHA (P31040) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
M1? variant details
- rs1061517
- ClinGen CA3172674
- ClinVar RCV000230468
- ClinVar RCV000567727
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- MetaLR 0.19
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 0.09
- MutPred 0.99
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)