L61R (p.Leu61Arg) variant of GALT (P07902)
L61R (p.Leu61Arg) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L61R (p.Leu61Arg) variant details
- p.Leu61Arg
- gnomAD 9-34647188-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.62
- AlphaMissense 0.08
- MetaLR 0.87
- MetaSVM 0.78
- CADD 18.70
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available