K17R (p.Lys17Arg) variant of ATP1A3 (P13637)
K17R (p.Lys17Arg) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
K17R (p.Lys17Arg) variant details
- p.Lys17Arg
- gnomAD rs1555866312
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 24.30
- PolyPhen-2 0.78
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available