R12L (p.Arg12Leu) variant of PLK1 (P53350)
R12L (p.Arg12Leu) in PLK1 (P53350) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in a lung squamous cell carcinoma sample. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- rs1959276494
- UniProt VAR 041018
- gnomAD rs1959276494
- Uncertain significance
- in a lung squamous cell carcinoma sample
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.30
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.09
- EBI: Variant of uncertain significance (in a lung squamous cell carcinoma sample)
- UniProt: Uncertain significance (in a lung squamous cell carcinoma sample)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)