H54Y (p.His54Tyr) variant of SLC30A8 (Q8IWU4)
H54Y (p.His54Tyr) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H54Y (p.His54Tyr) variant details
- p.His54Tyr
- gnomAD 8-117147042-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.40
- MetaLR 0.33
- MetaSVM -0.42
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available