p.Ala13dup variant of ATP1A2 (P50993)
p.Ala13dup in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala13dup variant details
- rs1172592755
- gnomAD 1-160120926-T-TGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 17.40
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available