R8S (p.Arg8Ser) variant of GRIN2D (O15399)
R8S (p.Arg8Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- rs2147434074
- ClinGen CA406688122
- ClinVar RCV003031036
- 1000Genomes rs2147434074
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available