R21G (p.Arg21Gly) variant of CDKN2A (Tumor suppressor ARF)
R21G (p.Arg21Gly) in CDKN2A (Tumor suppressor ARF) 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 0.62 / 1. The record also includes population frequency data and structural context.
R21G (p.Arg21Gly) variant details
- p.Arg21Gly
- TOPMed rs1397255688
- gnomAD rs1397255688
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 17.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available