C221Y (p.Cys221Tyr) variant of ATP1A3 (P13637)
C221Y (p.Cys221Tyr) 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 0.68 / 1. The record also includes population frequency data and structural context.
C221Y (p.Cys221Tyr) variant details
- p.Cys221Tyr
- rs782125149
- ClinGen CA9467816
- ClinVar RCV000480352
- ExAC rs782125149
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available