M177T (p.Met177Thr) variant of GALT (P07902)
M177T (p.Met177Thr) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
M177T (p.Met177Thr) variant details
- p.Met177Thr
- rs2132343692
- ClinGen CA373281489
- ClinVar RCV001929493
- Ensembl rs2132343692
- Pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.76
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 0.98
- CADD 21.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)