R22Q (p.Arg22Gln) variant of SDHD (O14521)
R22Q (p.Arg22Gln) 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; Pheochromocytoma; Cowden syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs1555186772
- ClinGen CA382616925
- NCI-TCGA Cosmic COSV5477
- cosmic curated COSV54777
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Cowden syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.50
- AlphaMissense 0.08
- MetaLR 0.59
- MetaSVM -0.33
- CADD 17.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Cowde)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)