M96T (p.Met96Thr) variant of SLC2A1 (P11166)
M96T (p.Met96Thr) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Encephalopathy due to GLUT1 deficiency; GLUT1 deficienc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
M96T (p.Met96Thr) variant details
- p.Met96Thr
- rs1643481875
- ClinGen CA339961417
- ClinVar RCV001051269
- ClinVar RCV001449666
- Conflicting interpretations
- Inborn genetic diseases; Encephalopathy due to GLUT1 deficiency; GLUT1 deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- AlphaMissense 0.89
- MetaLR 0.65
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.65
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Encephalopathy due to GLUT1 deficiency;)
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)