G51A (p.Gly51Ala) variant of SLC6A19 (Q695T7)
G51A (p.Gly51Ala) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G51A (p.Gly51Ala) variant details
- p.Gly51Ala
- gnomAD rs1255317751
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.13
- MetaSVM -0.99
- CADD 26.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available