S2N (p.Ser2Asn) variant of ATP13A2 (Q9NQ11)
S2N (p.Ser2Asn) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- Ensembl rs2077805596
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.32
- CADD 23.30
- PolyPhen-2 0.83
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00045)
- Structural context available