A52V (p.Ala52Val) variant of SDHB (P21912)
A52V (p.Ala52Val) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- rs878854573
- ClinGen CA338227952
- ClinVar RCV002405376
- gnomAD rs878854573
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.34
- AlphaMissense 0.09
- MetaLR 0.87
- MetaSVM 0.53
- CADD 23.70
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)