P196L (p.Pro196Leu) variant of GALT (P07902)
P196L (p.Pro196Leu) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
P196L (p.Pro196Leu) variant details
- p.Pro196Leu
- rs886042066
- ClinGen CA10603764
- ClinVar RCV000289938
- ClinVar RCV001243258
- Conflicting interpretations
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 0.81
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.86
- ClinVar: Conflicting classifications of pathogenicity (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)