D29K (p.Asp29Lys) variant of ATP1A1 (P05023)
D29K (p.Asp29Lys) in ATP1A1 (P05023) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D29K (p.Asp29Lys) variant details
- p.Asp29Lys
- rs1196026923
- gnomAD 1-116384079-C-CAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 27.20
- Population evidence available
- Structural context available
- Literature evidence available