A18S (p.Ala18Ser) variant of VHL (P40337)
A18S (p.Ala18Ser) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- rs1332272921
- ClinGen CA351747273
- ClinVar RCV000563088
- gnomAD rs1332272921
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.20
- MetaLR 0.35
- MetaSVM -0.73
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- 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)