R48C (p.Arg48Cys) variant of PLK1 (P53350)
R48C (p.Arg48Cys) in PLK1 (P53350) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R48C (p.Arg48Cys) variant details
- p.Arg48Cys
- gnomAD rs1423348958
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.65
- CADD 32.00
- PolyPhen-2 0.71
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available