P31S (p.Pro31Ser) variant of GRIN2A (Q12879)
P31S (p.Pro31Ser) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- rs199942034
- ClinGen CA277615946
- NCI-TCGA Cosmic COSV5803
- NCI-TCGA Cosmic COSV5805
- Conflicting interpretations
- Inborn genetic diseases; Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.05
- CADD 11.40
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Landau-Kleffner syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.2e-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)