F5L (p.Phe5Leu) variant of GRIA1 (Glutamate receptor 1)
F5L (p.Phe5Leu) in GRIA1 (Glutamate receptor 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
F5L (p.Phe5Leu) variant details
- p.Phe5Leu
- ExAC rs772311830
- TOPMed rs772311830
- gnomAD rs772311830
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -1.02
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.18)
- Structural context available