S30A (p.Ser30Ala) variant of POLE (Q07864)
S30A (p.Ser30Ala) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
S30A (p.Ser30Ala) variant details
- p.Ser30Ala
- rs2136034778
- ClinGen CA387370565
- ClinVar RCV003658639
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- AlphaMissense 0.10
- MetaLR 0.01
- MetaSVM -0.98
- PolyPhen-2 0.01
- SIFT 0.12
- EVE 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available