D43N (p.Asp43Asn) variant of ATP1A1 (P05023)
D43N (p.Asp43Asn) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- gnomAD rs1217480321
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.62
- MetaLR 0.79
- MetaSVM 0.75
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.14
- Most common in the 1KG:CHS population (allele frequency 0.0098)
- Structural context available