N81S (p.Asn81Ser) variant of ATP13A2 (Q9NQ11)
N81S (p.Asn81Ser) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
N81S (p.Asn81Ser) variant details
- p.Asn81Ser
- TOPMed rs1570895086
- Missense
- Variant Prioritization Score for Impact Estimate 0.0744
- REVEL 0.06
- CADD 2.27
- PolyPhen-2 0.00
- SIFT 0.93
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available