T23I (p.Thr23Ile) variant of GALT (P07902)
T23I (p.Thr23Ile) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T23I (p.Thr23Ile) variant details
- p.Thr23Ile
- gnomAD 9-34646772-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.45
- CADD 21.30
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available