S2T (p.Ser2Thr) variant of ATM (Serine-protein kinase ATM)
S2T (p.Ser2Thr) in ATM (Serine-protein kinase ATM) 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 0.41 / 1. The record also includes structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- rs730881360
- ClinGen CA298207
- ClinVar RCV000159710
- TOPMed rs730881360
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- AlphaMissense 0.26
- MetaLR 0.22
- MetaSVM -0.72
- PolyPhen-2 1.00
- SIFT 0.08
- MutPred 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available