G50A (p.Gly50Ala) variant of ATP1A2 (P50993)
G50A (p.Gly50Ala) in ATP1A2 (P50993) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G50A (p.Gly50Ala) variant details
- p.Gly50Ala
- rs1219005191
- gnomAD 1-160121220-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 23.90
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available