D75E (p.Asp75Glu) variant of ATP1A1 (P05023)
D75E (p.Asp75Glu) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D75E (p.Asp75Glu) variant details
- p.Asp75Glu
- gnomAD 1-116387329-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.50
- CADD 9.85
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available