D31E (p.Asp31Glu) variant of ATP1A2 (P50993)
D31E (p.Asp31Glu) in ATP1A2 (P50993) is a missense 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.
D31E (p.Asp31Glu) variant details
- p.Asp31Glu
- gnomAD 1-160120986-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.32
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available