V43A (p.Val43Ala) variant of PLK1 (P53350)
V43A (p.Val43Ala) in PLK1 (P53350) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Recurrent spontaneous abortion. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
V43A (p.Val43Ala) variant details
- p.Val43Ala
- rs1597133306
- ClinGen CA395148816
- ClinVar RCV001250902
- Ensembl rs1597133306
- Uncertain significance
- Recurrent spontaneous abortion
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- AlphaMissense 0.38
- MetaLR 0.47
- MetaSVM -0.05
- PolyPhen-2 0.56
- SIFT 0.04
- MutPred 0.27
- ClinVar: Uncertain significance (Recurrent spontaneous abortion)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available