V57M (p.Val57Met) variant of GALT (P07902)
V57M (p.Val57Met) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V57M (p.Val57Met) variant details
- p.Val57Met
- gnomAD rs1426479143
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.69
- AlphaMissense 0.77
- MetaLR 0.99
- MetaSVM 1.01
- CADD 27.70
- PolyPhen-2 1.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available