D42D (p.Asp42Asp) variant of ATP1A1 (P05023)
D42D (p.Asp42Asp) in ATP1A1 (P05023) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D42D (p.Asp42Asp) variant details
- p.Asp42Asp
- rs1311327658
- gnomAD 1-116384785-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available