I24F (p.Ile24Phe) variant of SLC6A19 (Q695T7)
I24F (p.Ile24Phe) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
I24F (p.Ile24Phe) variant details
- p.Ile24Phe
- gnomAD 5-1201720-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 3.70
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available