A21G (p.Ala21Gly) variant of CDKN1B (P46527)
A21G (p.Ala21Gly) in CDKN1B (P46527) 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 0.43 / 1. The record also includes published literature and structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- rs1229515408
- ClinGen CA383968251
- ClinVar RCV003177198
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.14
- MetaLR 0.43
- MetaSVM -0.17
- PolyPhen-2 0.18
- SIFT 0.01
- EVE 0.39
- 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)