V203L (p.Val203Leu) variant of ATP1A3 (P13637)
V203L (p.Val203Leu) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
V203L (p.Val203Leu) variant details
- p.Val203Leu
- ExAC rs782613472
- gnomAD rs782613472
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available