R2S (p.Arg2Ser) variant of GRIN2D (O15399)
R2S (p.Arg2Ser) in GRIN2D (O15399) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Developmental and epileptic encephalopathy, 46. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R2S (p.Arg2Ser) variant details
- p.Arg2Ser
- rs982702259
- ClinGen CA309325405
- ClinVar RCV003340845
- ClinVar RCV003708774
- Uncertain significance
- not provided; Developmental and epileptic encephalopathy, 46
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Developmental and epileptic encephalopathy, 46)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00016)
- Structural context available
- Cited in: GRIN2D-Related Developmental and Epileptic Encephalopathy. (PMID 35914066)