D26N (p.Asp26Asn) variant of ATP13A2 (Q9NQ11)
D26N (p.Asp26Asn) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D26N (p.Asp26Asn) variant details
- p.Asp26Asn
- ExAC rs777060631
- gnomAD rs777060631
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.15
- CADD 23.80
- PolyPhen-2 0.14
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available