Y8L (p.Tyr8Leu) variant of SLC30A8 (Q8IWU4)
Y8L (p.Tyr8Leu) in SLC30A8 (Q8IWU4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Y8L (p.Tyr8Leu) variant details
- p.Tyr8Leu
- gnomAD 8-117135348-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 24.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available