P70L (p.Pro70Leu) variant of GALT (P07902)
P70L (p.Pro70Leu) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P70L (p.Pro70Leu) variant details
- p.Pro70Leu
- gnomAD 9-34647215-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.87
- CADD 26.40
- PolyPhen-2 0.60
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available