R48L (p.Arg48Leu) variant of GALT (P07902)
R48L (p.Arg48Leu) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
R48L (p.Arg48Leu) variant details
- p.Arg48Leu
- rs773683290
- ClinGen CA373278607
- ClinVar RCV003331887
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available