L22Q (p.Leu22Gln) variant of SLC30A8 (Q8IWU4)
L22Q (p.Leu22Gln) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L22Q (p.Leu22Gln) variant details
- p.Leu22Gln
- gnomAD 8-117135392-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.08
- CADD 21.70
- PolyPhen-2 0.22
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available