L22I (p.Leu22Ile) variant of SLC30A8 (Q8IWU4)
L22I (p.Leu22Ile) in SLC30A8 (Q8IWU4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L22I (p.Leu22Ile) variant details
- p.Leu22Ile
- 1000Genomes rs555484215
- ExAC rs555484215
- TOPMed rs555484215
- gnomAD rs555484215
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.03
- CADD 8.76
- PolyPhen-2 0.00
- SIFT 0.16
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available