D47N (p.Asp47Asn) variant of ATP1A2 (P50993)
D47N (p.Asp47Asn) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
D47N (p.Asp47Asn) variant details
- p.Asp47Asn
- gnomAD 1-160121213-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.46
- CADD 25.10
- PolyPhen-2 0.18
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available