G53R (p.Gly53Arg) variant of SLC6A19 (Q695T7)
G53R (p.Gly53Arg) 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.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- ExAC rs762309384
- TOPMed rs762309384
- gnomAD rs762309384
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available