A2G (p.Ala2Gly) variant of SDHD (O14521)
A2G (p.Ala2Gly) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- rs1440670464
- ClinGen CA382616614
- ClinVar RCV002533666
- gnomAD rs1440670464
- Uncertain significance
- Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural h
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- AlphaMissense 0.24
- MetaLR 0.78
- MetaSVM 0.22
- PolyPhen-2 0.04
- SIFT 0.09
- MutPred 0.39
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)