T251M (p.Thr251Met) variant of ATP1A3 (P13637)
T251M (p.Thr251Met) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
T251M (p.Thr251Met) variant details
- p.Thr251Met
- cosmic curated COSV10013
- TOPMed rs1471214305
- gnomAD rs1471214305
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.64
- MetaLR 0.93
- MetaSVM 1.08
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Dystonia 12)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available