P59R (p.Pro59Arg) variant of GALT (P07902)
P59R (p.Pro59Arg) in GALT (P07902) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; Inborn genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P59R (p.Pro59Arg) variant details
- p.Pro59Arg
- 1000Genomes rs139056441
- ESP rs139056441
- ExAC rs139056441
- TOPMed rs139056441
- Uncertain significance
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.59
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available