A19T (p.Ala19Thr) variant of GALT (P07902)
A19T (p.Ala19Thr) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- gnomAD 9-34646759-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.45
- AlphaMissense 0.07
- MetaLR 0.89
- MetaSVM 0.61
- CADD 5.54
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available