I44N (p.Ile44Asn) variant of SLC18A2 (Q05940)
I44N (p.Ile44Asn) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
I44N (p.Ile44Asn) variant details
- p.Ile44Asn
- gnomAD rs1258627120
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available