A35E (p.Ala35Glu) variant of CDKN2A (Tumor suppressor ARF)
A35E (p.Ala35Glu) 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 0.42 / 1. The record also includes population frequency data and structural context.
A35E (p.Ala35Glu) variant details
- p.Ala35Glu
- Ensembl rs2131148491
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 21.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available