G53E (p.Gly53Glu) variant of SDHB (P21912)
G53E (p.Gly53Glu) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G53E (p.Gly53Glu) variant details
- p.Gly53Glu
- rs34916635
- ClinGen CA015535
- ClinVar RCV000163315
- ClinVar RCV000266464
- Benign/Likely benign
- Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointestinal stromal tum
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.61
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.14
- ClinVar: Benign/Likely benign (Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointest)
- EBI: Benign (in PPGL4)
- UniProt: Benign (in PPGL4)
- Most common in the Ashkenazi Jewish population (allele frequency 0.014)
- 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)