P13L (p.Pro13Leu) variant of GRIN2A (Q12879)
P13L (p.Pro13Leu) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- rs367543131
- ClinGen CA225871
- NCI-TCGA Cosmic COSV5804
- cosmic curated COSV58042
- Likely benign
- Inborn genetic diseases; Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.04
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Likely benign (Inborn genetic diseases; Landau-Kleffner syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)