N14S (p.Asn14Ser) variant of ATP1A3 (P13637)
N14S (p.Asn14Ser) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
N14S (p.Asn14Ser) variant details
- p.Asn14Ser
- TOPMed rs2075307222
- gnomAD rs2075307222
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 5.66
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available