P295S (p.Pro295Ser) variant of GALT (P07902)
P295S (p.Pro295Ser) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P295S (p.Pro295Ser) variant details
- p.Pro295Ser
- rs111033783
- ClinGen CA373284454
- ClinVar RCV003816755
- Likely pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.96
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)