P25R (p.Pro25Arg) variant of SLC35A2 (UDP-galactose translocator)
P25R (p.Pro25Arg) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P25R (p.Pro25Arg) variant details
- p.Pro25Arg
- ExAC rs781993117
- TOPMed rs781993117
- gnomAD rs781993117
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.08
- CADD 22.10
- PolyPhen-2 0.23
- SIFT 0.11
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PATHAN population (allele frequency 0.036)
- Structural context available