R17G (p.Arg17Gly) variant of SDHD (O14521)
R17G (p.Arg17Gly) 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; Cowden syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R17G (p.Arg17Gly) variant details
- p.Arg17Gly
- rs1314133983
- ClinGen CA382616758
- ClinVar RCV001819909
- ClinVar RCV002241392
- Uncertain significance
- Carney-Stratakis syndrome; Pheochromocytoma; Cowden syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.57
- AlphaMissense 0.08
- MetaLR 0.67
- MetaSVM -0.04
- CADD 25.60
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Pheochromocytoma; Cowden syndrome 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)