S20G (p.Ser20Gly) variant of POLE (Q07864)
S20G (p.Ser20Gly) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
S20G (p.Ser20Gly) variant details
- p.Ser20Gly
- rs1405389237
- ClinGen CA387373299
- ClinVar RCV003539357
- TOPMed rs1405389237
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0672
- REVEL 0.01
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available