P28A (p.Pro28Ala) variant of PLK1 (P53350)
P28A (p.Pro28Ala) in PLK1 (P53350) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P28A (p.Pro28Ala) variant details
- p.Pro28Ala
- ExAC rs754746085
- TOPMed rs754746085
- gnomAD rs754746085
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.20
- CADD 9.57
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available