R38Q (p.Arg38Gln) variant of SDHD (O14521)
R38Q (p.Arg38Gln) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma; Paragangliomas with s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- rs199901239
- ClinGen CA382617018
- ClinVar RCV002241639
- ClinVar RCV002451612
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Paragangliomas with s
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.54
- CADD 0.95
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Parag)
- EBI: Likely benign
- UniProt: Likely benign
- 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)