V57E (p.Val57Glu) variant of GALT (P07902)
V57E (p.Val57Glu) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V57E (p.Val57Glu) variant details
- p.Val57Glu
- gnomAD 9-34647176-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.60
- CADD 25.30
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available