G12D (p.Gly12Asp) variant of SDHD (O14521)
G12D (p.Gly12Asp) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carney-Stratakis synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- rs764384503
- ClinGen CA071285
- ClinVar RCV002528396
- ClinVar RCV003476278
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carney-Stratakis synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.44
- AlphaMissense 0.11
- MetaLR 0.78
- MetaSVM 0.05
- CADD 25.10
- PolyPhen-2 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)