I22N (p.Ile22Asn) variant of SLC18A2 (Q05940)
I22N (p.Ile22Asn) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
I22N (p.Ile22Asn) variant details
- p.Ile22Asn
- gnomAD 10-117241758-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 31.00
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available