P59H (p.Pro59His) variant of GALT (P07902)
P59H (p.Pro59His) in GALT (P07902) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Deficiency of UDPglucose-hexose-1-phosphate uridylyltra. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P59H (p.Pro59His) variant details
- p.Pro59His
- 1000Genomes rs139056441
- ESP rs139056441
- ExAC rs139056441
- TOPMed rs139056441
- Uncertain significance
- Inborn genetic diseases; Deficiency of UDPglucose-hexose-1-phosphate uridylyltra
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.54
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; Deficiency of UDPglucose-hexose-1-phosp)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00047)
- Structural context available