I32L (p.Ile32Leu) variant of GALT (P07902)
I32L (p.Ile32Leu) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I32L (p.Ile32Leu) variant details
- p.Ile32Leu
- gnomAD 9-34647100-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.41
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available