A19T (p.Ala19Thr) variant of SLC30A8 (Q8IWU4)
A19T (p.Ala19Thr) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- gnomAD 8-117135382-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.04
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available