H68Y (p.His68Tyr) variant of GALT (P07902)
H68Y (p.His68Tyr) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H68Y (p.His68Tyr) variant details
- p.His68Tyr
- gnomAD 9-34647208-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.54
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available