L22Q (p.Leu22Gln) variant of GRIN2D (O15399)
L22Q (p.Leu22Gln) in GRIN2D (O15399) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of GRIN2D-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L22Q (p.Leu22Gln) variant details
- p.Leu22Gln
- rs1600967281
- ClinGen CA406688208
- ClinVar RCV003929731
- Ensembl rs1600967281
- Likely benign
- GRIN2D-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 24.80
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Likely benign (GRIN2D-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00027)
- Structural context available