F8L (p.Phe8Leu) variant of GRIA1 (Glutamate receptor 1)
F8L (p.Phe8Leu) in GRIA1 (Glutamate receptor 1) 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 0.28 / 1. The record also includes population frequency data and structural context.
F8L (p.Phe8Leu) variant details
- p.Phe8Leu
- NCI-TCGA Cosmic COSV5359
- cosmic curated COSV53590
- TOPMed rs1753852169
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.09
- MetaLR 0.01
- MetaSVM -1.00
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available