P196A (p.Pro196Ala) variant of GALT (P07902)
P196A (p.Pro196Ala) 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 0.91 / 1. The record also includes published literature and structural context.
P196A (p.Pro196Ala) variant details
- p.Pro196Ala
- rs1821163303
- ClinGen CA373281920
- ClinVar RCV003608757
- Ensembl rs1821163303
- Likely pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 0.75
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 0.88
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)