E34D (p.Glu34Asp) variant of ATP1A1 (P05023)
E34D (p.Glu34Asp) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- gnomAD 1-116384103-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.46
- CADD 8.89
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the HGDP:SAN population (allele frequency 0.58)
- Structural context available
- Literature evidence available