L1424F (p.Leu1424Phe) variant of GRIN2B (Q13224)
L1424F (p.Leu1424Phe) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Intellectual disability, autosomal dominant 6; Developmental and epileptic encep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
L1424F (p.Leu1424Phe) variant details
- p.Leu1424Phe
- rs748128078
- Benign
- Intellectual disability, autosomal dominant 6; Developmental and epileptic encep
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- MetaLR 0.02
- MetaSVM -1.04
- CADD 22.00
- PolyPhen-2 0.15
- SIFT 0.24
- ClinVar: Benign (Intellectual disability, autosomal dominant 6; Developmental and)
- UniProt: Benign (in dbSNP:rs748128078)
- Population evidence available
- Cited in: Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. (PMID 22833210)