R11H (p.Arg11His) variant of SDHB (P21912)
R11H (p.Arg11His) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Carney-Stratakis syndrome; Pheochromocytoma/paraganglioma syndrome 4; Mitochondr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R11H (p.Arg11His) variant details
- p.Arg11His
- rs111430410
- ClinGen CA015753
- ClinVar RCV000148868
- ClinVar RCV000232749
- Benign/Likely benign
- Carney-Stratakis syndrome; Pheochromocytoma/paraganglioma syndrome 4; Mitochondr
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.63
- CADD 14.60
- PolyPhen-2 0.17
- SIFT 0.56
- ClinVar: Benign/Likely benign (Carney-Stratakis syndrome; Pheochromocytoma/paraganglioma syndro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SAN population (allele frequency 0.25)
- 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)