C135W (p.Cys135Trp) variant of ATP1A3 (P13637)
C135W (p.Cys135Trp) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C135W (p.Cys135Trp) variant details
- p.Cys135Trp
- ExAC rs782252241
- gnomAD rs782252241
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 28.00
- PolyPhen-2 0.21
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available