R30S (p.Arg30Ser) variant of CDKN1B (P46527)
R30S (p.Arg30Ser) in CDKN1B (P46527) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. 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.
R30S (p.Arg30Ser) variant details
- p.Arg30Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.78
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available