I24M (p.Ile24Met) variant of SLC6A19 (Q695T7)
I24M (p.Ile24Met) 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.
I24M (p.Ile24Met) variant details
- p.Ile24Met
- gnomAD 5-1201722-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.51
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available