I24V (p.Ile24Val) variant of SLC6A19 (Q695T7)
I24V (p.Ile24Val) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
I24V (p.Ile24Val) variant details
- p.Ile24Val
- rs769288666
- ClinGen CA3182551
- ClinVar RCV002966834
- ExAC rs769288666
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0899
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available