P52T (p.Pro52Thr) variant of GALT (P07902)
P52T (p.Pro52Thr) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P52T (p.Pro52Thr) variant details
- p.Pro52Thr
- gnomAD 9-34647160-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.93
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available