I127S (p.Ile127Ser) variant of SDHB (P21912)
I127S (p.Ile127Ser) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
I127S (p.Ile127Ser) variant details
- p.Ile127Ser
- rs786201095
- ClinGen CA015797
- ClinVar RCV000162628
- ClinVar RCV000170330
- Pathogenic/Likely pathogenic
- Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointestinal stromal tum
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.98
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointest)
- EBI: Pathogenic (in PPGL4)
- UniProt: Pathogenic (in PPGL4)
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- 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)