T222I (p.Thr222Ile) variant of ATP1A3 (P13637)
T222I (p.Thr222Ile) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
T222I (p.Thr222Ile) variant details
- p.Thr222Ile
- cosmic curated COSV10587
- Ensembl rs2075276786
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 24.20
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available