M1V (p.Met1Val) variant of SDHD (O14521)
M1V (p.Met1Val) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs104894307
- ClinGen CA016859
- ClinVar RCV002228010
- ClinVar RCV004018582
- Pathogenic
- Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome
- 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 (Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. (PMID 15066320)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)