I461T (p.Ile461Thr) variant of GRIN2A (Q12879)
I461T (p.Ile461Thr) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Landau-Kleffner syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
I461T (p.Ile461Thr) variant details
- p.Ile461Thr
- rs1567337914
- ClinGen CA394800773
- ClinVar RCV001559471
- ClinVar RCV001882649
- Uncertain significance
- Inborn genetic diseases; Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- AlphaMissense 1.00
- MetaLR 0.29
- MetaSVM -0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Uncertain significance (Inborn genetic diseases; Landau-Kleffner syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)