G20D (p.Gly20Asp) variant of GRIN2A (Q12879)
G20D (p.Gly20Asp) in GRIN2A (Q12879) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- NCI-TCGA Cosmic COSV5803
- cosmic curated COSV58032
- NCI-TCGA Cosmic COSV5805
- TOPMed rs2050242121
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.07
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available