A6T (p.Ala6Thr) variant of SDHB (P21912)
A6T (p.Ala6Thr) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- rs1570963601
- ClinGen CA2582341895
- ClinVar RCV003377775
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.31
- AlphaMissense 0.10
- MetaLR 0.79
- MetaSVM 0.07
- CADD 17.80
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)