V269M (p.Val269Met) variant of ATP1A3 (P13637)
V269M (p.Val269Met) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V269M (p.Val269Met) variant details
- p.Val269Met
- ExAC rs782749330
- gnomAD rs782749330
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available