T16A (p.Thr16Ala) variant of SDHB (P21912)
T16A (p.Thr16Ala) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; Carney. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T16A (p.Thr16Ala) variant details
- p.Thr16Ala
- rs1433760506
- ClinGen CA338230706
- ClinVar RCV000814800
- ClinVar RCV002336686
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; Carney
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.35
- AlphaMissense 0.08
- MetaLR 0.84
- MetaSVM 0.49
- CADD 0.02
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)