P32S (p.Pro32Ser) variant of GRIN2A (Q12879)
P32S (p.Pro32Ser) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P32S (p.Pro32Ser) variant details
- p.Pro32Ser
- rs1463948759
- ClinGen CA394715744
- cosmic curated COSV58032
- ClinVar RCV003582879
- Likely benign
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.21
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Likely benign (Landau-Kleffner syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)