P21A (p.Pro21Ala) variant of GRIN2A (Q12879)
P21A (p.Pro21Ala) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P21A (p.Pro21Ala) variant details
- p.Pro21Ala
- rs1285592726
- ClinGen CA394715806
- ClinVar RCV000931531
- ClinVar RCV005338462
- Conflicting interpretations
- Inborn genetic diseases; Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.07
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Landau-Kleffner syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)