G15A (p.Gly15Ala) variant of SDHD (O14521)
G15A (p.Gly15Ala) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
G15A (p.Gly15Ala) variant details
- p.Gly15Ala
- rs1865621392
- ClinGen CA382616743
- ClinVar RCV002241767
- ClinVar RCV002327653
- Uncertain significance
- Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- AlphaMissense 0.10
- MetaLR 0.74
- MetaSVM 0.02
- PolyPhen-2 0.04
- SIFT 0.24
- MutPred 0.36
- ClinVar: Uncertain significance (Pheochromocytoma; Paragangliomas with sensorineural hearing loss)
- 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)