K50K (p.Lys50Lys) variant of SLC2A4 (P14672)
K50K (p.Lys50Lys) in SLC2A4 (P14672) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
K50K (p.Lys50Lys) variant details
- p.Lys50Lys
- gnomAD 17-7283361-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 25.30
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available