D36Y (p.Asp36Tyr) variant of SLC6A19 (Q695T7)
D36Y (p.Asp36Tyr) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
D36Y (p.Asp36Tyr) variant details
- p.Asp36Tyr
- TOPMed rs934847303
- gnomAD rs934847303
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.38
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available