Q64* (p.Gln64Ter) variant of ATP1A2 (P50993)
Q64* (p.Gln64Ter) in ATP1A2 (P50993) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q64* (p.Gln64Ter) variant details
- p.Gln64Ter
- gnomAD 1-160123225-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available