G20C (p.Gly20Cys) variant of GRIN2A (Q12879)
G20C (p.Gly20Cys) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- rs779149309
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10041
- ExAC rs779149309
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.11
- CADD 22.00
- PolyPhen-2 0.14
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available