R19K (p.Arg19Lys) variant of CDKN1B (P46527)
R19K (p.Arg19Lys) in CDKN1B (P46527) 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 0.55 / 1. The record also includes population frequency data and structural context.
R19K (p.Arg19Lys) variant details
- p.Arg19Lys
- cosmic curated COSV10584
- Ensembl rs1946487134
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.42
- CADD 24.80
- PolyPhen-2 0.02
- SIFT 0.05
- 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