Q53P (p.Gln53Pro) variant of CDKN2A (Tumor suppressor ARF)
Q53P (p.Gln53Pro) 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 0.20 / 1. The record also includes population frequency data and structural context.
Q53P (p.Gln53Pro) variant details
- p.Gln53Pro
- ExAC rs772048734
- gnomAD rs772048734
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- CADD 16.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available