S45S (p.Ser45Ser) variant of ATP1A2 (P50993)
S45S (p.Ser45Ser) in ATP1A2 (P50993) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S45S (p.Ser45Ser) variant details
- p.Ser45Ser
- gnomAD 1-160121209-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available