D7N (p.Asp7Asn) variant of ATP1A3 (P13637)
D7N (p.Asp7Asn) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
D7N (p.Asp7Asn) variant details
- p.Asp7Asn
- ExAC rs781962237
- gnomAD rs781962237
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available