V3A (p.Val3Ala) variant of SDHD (O14521)
V3A (p.Val3Ala) 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 0.50 / 1. The record also includes published literature and structural context.
V3A (p.Val3Ala) variant details
- p.Val3Ala
- rs1308232344
- ClinGen CA382616626
- ClinVar RCV004508400
- gnomAD rs1308232344
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 0.06
- MetaLR 0.72
- MetaSVM -0.04
- PolyPhen-2 0.02
- SIFT 0.01
- MutPred 0.37
- 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)