V17I (p.Val17Ile) variant of GRIN2A (Q12879)
V17I (p.Val17Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V17I (p.Val17Ile) variant details
- p.Val17Ile
- rs2050242807
- ClinGen CA394715830
- ClinVar RCV002019958
- ClinVar RCV006368075
- Uncertain significance
- Inborn genetic diseases; Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.05
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases; Landau-Kleffner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)