M1L (p.Met1Leu) variant of SDHD (O14521)
M1L (p.Met1Leu) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs104894307
- ClinGen CA070834
- ClinVar RCV000485004
- ClinVar RCV000492287
- Pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; not provided; Pheochrom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)