D6E (p.Asp6Glu) variant of ATP1A3 (P13637)
D6E (p.Asp6Glu) in ATP1A3 (P13637) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D6E (p.Asp6Glu) variant details
- p.Asp6Glu
- ExAC rs782107485
- gnomAD rs782107485
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.26
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available