G60G (p.Gly60Gly) variant of ATP1A2 (P50993)
G60G (p.Gly60Gly) in ATP1A2 (P50993) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G60G (p.Gly60Gly) variant details
- p.Gly60Gly
- gnomAD 1-160123215-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 13.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available