T6I (p.Thr6Ile) variant of GALT (P07902)
T6I (p.Thr6Ile) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
T6I (p.Thr6Ile) variant details
- p.Thr6Ile
- rs777562713
- gnomAD 9-34647213-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 11.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available