L22R (p.Leu22Arg) variant of SLC30A8 (Q8IWU4)
L22R (p.Leu22Arg) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L22R (p.Leu22Arg) variant details
- p.Leu22Arg
- ExAC rs761514247
- gnomAD rs761514247
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.19
- CADD 22.00
- PolyPhen-2 0.28
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available