L57L (p.Leu57Leu) variant of ATP1A2 (P50993)
L57L (p.Leu57Leu) in ATP1A2 (P50993) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L57L (p.Leu57Leu) variant details
- p.Leu57Leu
- rs1651388179
- gnomAD 1-160121245-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 6.99
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available