G9A (p.Gly9Ala) variant of CDKN1B (P46527)
G9A (p.Gly9Ala) in CDKN1B (P46527) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G9A (p.Gly9Ala) variant details
- p.Gly9Ala
- gnomAD rs1946485926
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.48
- CADD 26.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available