R29L (p.Arg29Leu) variant of CDKN2A (Tumor suppressor ARF)
R29L (p.Arg29Leu) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- gnomAD rs1307839309
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 25.40
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available