H54L (p.His54Leu) variant of SLC30A8 (Q8IWU4)
H54L (p.His54Leu) 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 and structural context.
H54L (p.His54Leu) variant details
- p.His54Leu
- ESP rs141730422
- ExAC rs141730422
- TOPMed rs141730422
- gnomAD rs141730422
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.52
- MetaLR 0.36
- MetaSVM -0.28
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available