S38N (p.Ser38Asn) variant of ATP13A2 (Q9NQ11)
S38N (p.Ser38Asn) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S38N (p.Ser38Asn) variant details
- p.Ser38Asn
- Ensembl rs2077524042
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.07
- CADD 19.80
- PolyPhen-2 0.29
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available