Q40R (p.Gln40Arg) variant of SLC6A19 (Q695T7)
Q40R (p.Gln40Arg) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Q40R (p.Gln40Arg) variant details
- p.Gln40Arg
- gnomAD rs1369938743
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.60
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available