G15R (p.Gly15Arg) variant of SDHD (O14521)
G15R (p.Gly15Arg) 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; Carney-Stratakis syndrome; Cowden syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- rs1476121898
- ClinGen CA382616736
- ClinVar RCV002235295
- gnomAD rs1476121898
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Carney-Stratakis syndrome; Cowden syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.51
- AlphaMissense 0.10
- MetaLR 0.64
- MetaSVM 0.04
- CADD 28.90
- PolyPhen-2 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Carney-Stratakis syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)