Y10* (p.Tyr10Ter) variant of ATP1A1 (P05023)
Y10* (p.Tyr10Ter) in ATP1A1 (P05023) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Y10* (p.Tyr10Ter) variant details
- p.Tyr10Ter
- gnomAD 1-116384031-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 36.00
- Most common in the Amish population (allele frequency 0.043)
- Structural context available
- Literature evidence available