R38H (p.Arg38His) variant of SDHB (P21912)
R38H (p.Arg38His) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- rs143058777
- ClinGen CA089514
- ClinVar RCV000230624
- ClinVar RCV000260688
- Conflicting interpretations
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.51
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocyto)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- 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)