R230H (p.Arg230His) variant of SDHB (P21912)
R230H (p.Arg230His) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointestinal stromal tum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R230H (p.Arg230His) variant details
- p.Arg230His
- rs587782604
- ClinGen CA016085
- NCI-TCGA Cosmic COSV6496
- ClinVar RCV000131970
- Pathogenic/Likely pathogenic
- Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointestinal stromal tum
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.94
- CADD 27.10
- PolyPhen-2 0.76
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointest)
- EBI: Pathogenic (in MC2DN4)
- UniProt: Pathogenic (in MC2DN4)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Mutation of SDHB is a cause of hypoxia-related high-altitude paraganglioma. (PMID 20592014)
- Cited in: Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for… (PMID 27604842)