S135A (p.Ser135Ala) variant of GALT (P07902)
S135A (p.Ser135Ala) 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 0.74 / 1. The record also includes published literature and structural context.
S135A (p.Ser135Ala) variant details
- p.Ser135Ala
- rs2132343082
- ClinGen CA373280650
- ClinVar RCV002022361
- Ensembl rs2132343082
- Likely pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- AlphaMissense 0.24
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.74
- SIFT 0.01
- EVE 0.61
- ClinVar: Likely pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Likely pathogenic (in GALAC1)
- UniProt: Likely pathogenic (in GALAC1)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)