A41P (p.Ala41Pro) variant of CDKN2A (Tumor suppressor ARF)
A41P (p.Ala41Pro) 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 0.44 / 1. The record also includes population frequency data.
A41P (p.Ala41Pro) variant details
- p.Ala41Pro
- TOPMed rs1064793582
- gnomAD rs1064793582
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 22.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)