V50L (p.Val50Leu) variant of SLC6A19 (Q695T7)
V50L (p.Val50Leu) in SLC6A19 (Q695T7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- ExAC rs745526472
- TOPMed rs745526472
- gnomAD rs745526472
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.46
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available