P59L (p.Pro59Leu) variant of SLC6A19 (Q695T7)
P59L (p.Pro59Leu) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- gnomAD rs1434150965
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.62
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available