A16T (p.Ala16Thr) variant of SDHC (Q99643)
A16T (p.Ala16Thr) in SDHC (Q99643) 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; Gastrointestinal stromal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- rs878994954
- ClinGen CA31683716
- ClinVar RCV000821024
- ClinVar RCV002332706
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Gastrointestinal stromal
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.21
- MetaLR 0.53
- MetaSVM -0.33
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Gastroint)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)