V4L (p.Val4Leu) variant of SLC35A2 (UDP-galactose translocator)
V4L (p.Val4Leu) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V4L (p.Val4Leu) variant details
- p.Val4Leu
- TOPMed rs1557044125
- gnomAD rs1557044125
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.03
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the 1KG:TSI population (allele frequency 0.0065)
- Structural context available