Y18F (p.Tyr18Phe) variant of SLC30A8 (Q8IWU4)
Y18F (p.Tyr18Phe) in SLC30A8 (Q8IWU4) is a missense 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.
Y18F (p.Tyr18Phe) variant details
- p.Tyr18Phe
- gnomAD 8-117135380-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.13
- CADD 20.00
- PolyPhen-2 0.11
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available