W56R (p.Trp56Arg) variant of SLC6A19 (Q695T7)
W56R (p.Trp56Arg) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
W56R (p.Trp56Arg) variant details
- p.Trp56Arg
- TOPMed rs1403845937
- gnomAD rs1403845937
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available