I15V (p.Ile15Val) variant of SLC6A19 (Q695T7)
I15V (p.Ile15Val) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I15V (p.Ile15Val) variant details
- p.Ile15Val
- ExAC rs750588579
- gnomAD rs750588579
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 22.30
- PolyPhen-2 0.82
- SIFT 0.14
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available