Y53W (p.Tyr53Trp) variant of ATP1A2 (P50993)
Y53W (p.Tyr53Trp) in ATP1A2 (P50993) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y53W (p.Tyr53Trp) variant details
- p.Tyr53Trp
- gnomAD 1-160121226-GCAAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.806
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available