G11C (p.Gly11Cys) variant of GRIA1 (Glutamate receptor 1)
G11C (p.Gly11Cys) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G11C (p.Gly11Cys) variant details
- p.Gly11Cys
- cosmic curated COSV53588
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.13
- MetaLR 0.03
- MetaSVM -1.12
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available