G138E (p.Gly138Glu) variant of SDHD (O14521)
G138E (p.Gly138Glu) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G138E (p.Gly138Glu) variant details
- p.Gly138Glu
- rs1401695686
- ClinGen CA382619287
- ClinVar RCV001990958
- ClinVar RCV003348710
- Conflicting interpretations
- Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.76
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Conflicting classifications of pathogenicity (Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)