A15S (p.Ala15Ser) variant of SDHB (P21912)
A15S (p.Ala15Ser) in SDHB (P21912) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- rs1553179340
- ClinGen CA308156
- ClinVar RCV001921860
- ClinVar RCV004041214
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.33
- CADD 8.74
- PolyPhen-2 0.01
- SIFT 0.49
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)