S53F (p.Ser53Phe) variant of SLC35A2 (UDP-galactose translocator)
S53F (p.Ser53Phe) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S53F (p.Ser53Phe) variant details
- p.Ser53Phe
- rs782366065
- gnomAD X-48905240-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 10.50
- Most common in the Ashkenazi Jewish population (allele frequency 0.0034)
- Structural context available
- Literature evidence available