G12V (p.Gly12Val) variant of SDHD (O14521)
G12V (p.Gly12Val) 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; Cowden syndrome 3; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- rs764384503
- ClinGen CA382616715
- ClinVar RCV001960997
- ExAC rs764384503
- Uncertain significance
- Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.11
- MetaLR 0.78
- MetaSVM 0.05
- PolyPhen-2 0.10
- SIFT 0.07
- MutPred 0.34
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Cowden syndrome 3; Pheochromocytoma)
- 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)