L45M (p.Leu45Met) variant of SLC30A8 (Q8IWU4)
L45M (p.Leu45Met) in SLC30A8 (Q8IWU4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L45M (p.Leu45Met) variant details
- p.Leu45Met
- rs148043363
- ClinGen CA4853452
- ClinVar RCV004182147
- 1000Genomes rs148043363
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.17
- CADD 15.60
- PolyPhen-2 0.47
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available