P183T (p.Pro183Thr) variant of GALT (P07902)
P183T (p.Pro183Thr) 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 0.75 / 1. The record also includes published literature and structural context.
P183T (p.Pro183Thr) variant details
- p.Pro183Thr
- rs111033721
- ClinGen CA252848
- ClinVar RCV000003803
- UniProt VAR 002585
- Likely pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.29
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.90
- SIFT 0.00
- EVE 0.53
- ClinVar: Likely pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Structural context available
- Cited in: Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle. (PMID 8869397)
- Cited in: Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with… (PMID 8956044)