A4S (p.Ala4Ser) variant of PLK1 (P53350)
A4S (p.Ala4Ser) in PLK1 (P53350) is a missense change. Clinical records from ClinVar, EBI, 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 0.32 / 1. The record also includes population frequency data and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- rs759656440
- ClinGen CA7964124
- ClinVar RCV004150718
- ExAC rs759656440
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.11
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5e-05)
- Structural context available