G16V (p.Gly16Val) variant of SDHD (O14521)
G16V (p.Gly16Val) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- rs2135264810
- ClinGen CA382616756
- ClinVar RCV003802662
- ClinVar RCV004950689
- Uncertain significance
- Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 0.08
- MetaLR 0.70
- MetaSVM -0.38
- PolyPhen-2 0.00
- SIFT 0.91
- MutPred 0.55
- ClinVar: Uncertain significance (Pheochromocytoma; Cowden syndrome 3; Carney-Stratakis syndrome)
- 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)