D37Y (p.Asp37Tyr) variant of SDHD (O14521)
D37Y (p.Asp37Tyr) in SDHD (O14521) 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 0.46 / 1. The record also includes published literature and structural context.
D37Y (p.Asp37Tyr) variant details
- p.Asp37Tyr
- rs1865654125
- ClinGen CA382617010
- ClinVar RCV003177714
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- AlphaMissense 0.09
- MetaLR 0.66
- MetaSVM 0.04
- PolyPhen-2 0.00
- SIFT 0.10
- EVE 0.23
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)