T16R (p.Thr16Arg) variant of SDHB (P21912)
T16R (p.Thr16Arg) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T16R (p.Thr16Arg) variant details
- p.Thr16Arg
- rs775350144
- ClinGen CA089631
- ClinVar RCV000456714
- ClinVar RCV000574048
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.40
- AlphaMissense 0.15
- MetaLR 0.83
- MetaSVM 0.42
- CADD 11.10
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; not speci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)