R34S (p.Arg34Ser) variant of POLE (Q07864)
R34S (p.Arg34Ser) 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 0.48 / 1. The record also includes population frequency data and structural context.
R34S (p.Arg34Ser) variant details
- p.Arg34Ser
- ExAC rs771051323
- TOPMed rs771051323
- gnomAD rs771051323
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.29
- CADD 23.80
- PolyPhen-2 0.25
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available