S20T (p.Ser20Thr) variant of POLE (Q07864)
S20T (p.Ser20Thr) in POLE (Q07864) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
S20T (p.Ser20Thr) variant details
- p.Ser20Thr
- gnomAD rs2043297204
- Missense
- Variant Prioritization Score for Impact Estimate 0.0882
- REVEL 0.02
- CADD 7.85
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available