E42G (p.Glu42Gly) variant of SDHD (O14521)
E42G (p.Glu42Gly) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cowden syndrome 3; Carney-Stratakis syndrome; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E42G (p.Glu42Gly) variant details
- p.Glu42Gly
- rs2498900089
- ClinGen CA382617036
- ClinVar RCV003278396
- ClinVar RCV003777249
- Conflicting interpretations
- Cowden syndrome 3; Carney-Stratakis syndrome; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.48
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Conflicting classifications of pathogenicity (Cowden syndrome 3; Carney-Stratakis syndrome; Pheochromocytoma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)