M1I (p.Met1Ile) variant of SDHD (O14521)
M1I (p.Met1Ile) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pheochromocytoma; Carney-Stratakis syndrome; Paragangliomas with sensorineural h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs80338842
- ClinGen CA016987
- ClinVar RCV000007315
- ClinVar RCV000020522
- Pathogenic
- Pheochromocytoma; Carney-Stratakis syndrome; Paragangliomas with sensorineural h
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (Pheochromocytoma; Carney-Stratakis syndrome; Paragangliomas with)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. (PMID 11391796)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)