G138R (p.Gly138Arg) variant of SDHD (O14521)
G138R (p.Gly138Arg) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cowden syndrome 3; Carney-Stratakis syndrome; Paragangliomas with sensorineural. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G138R (p.Gly138Arg) variant details
- p.Gly138Arg
- rs786203932
- ClinGen CA017004
- ClinVar RCV000167450
- ClinVar RCV000478572
- Pathogenic/Likely pathogenic
- Cowden syndrome 3; Carney-Stratakis syndrome; Paragangliomas with sensorineural
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (Cowden syndrome 3; Carney-Stratakis syndrome; Paragangliomas wit)
- EBI: Pathogenic
- UniProt: 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)