T6A (p.Thr6Ala) variant of GALT (P07902)
T6A (p.Thr6Ala) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- 1000Genomes rs573516675
- ExAC rs573516675
- gnomAD rs573516675
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.41
- CADD 3.13
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available