V29A (p.Val29Ala) variant of ATP1A3 (P13637)
V29A (p.Val29Ala) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- ExAC rs782688554
- TOPMed rs782688554
- gnomAD rs782688554
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 26.10
- PolyPhen-2 0.28
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available