K13T (p.Lys13Thr) variant of ATP1A3 (P13637)
K13T (p.Lys13Thr) in ATP1A3 (P13637) 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 0.70 / 1. The record also includes population frequency data and structural context.
K13T (p.Lys13Thr) variant details
- p.Lys13Thr
- rs782280535
- ClinGen CA9467980
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.30
- MetaLR 0.80
- MetaSVM 0.73
- PolyPhen-2 0.98
- SIFT 0.04
- MutPred 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available