P118L (p.Pro118Leu) variant of SLC35A2 (UDP-galactose translocator)
P118L (p.Pro118Leu) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P118L (p.Pro118Leu) variant details
- p.Pro118Leu
- gnomAD X-48905129-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- CADD 2.28
- Most common in the Non-Finnish European population (allele frequency 0.00024)
- Structural context available
- Literature evidence available