R38C (p.Arg38Cys) variant of SDHB (P21912)
R38C (p.Arg38Cys) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Carney-Stratakis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- rs202119350
- ClinGen CA089513
- ClinVar RCV000409187
- ClinVar RCV000456572
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Carney-Stratakis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.87
- CADD 25.40
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Carney-St)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)