F644L (p.Phe644Leu) variant of GRIA2 (Glutamate receptor 2)
F644L (p.Phe644Leu) in GRIA2 (Glutamate receptor 2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature.
F644L (p.Phe644Leu) variant details
- p.Phe644Leu
- rs761753966
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- AlphaMissense 1.00
- MetaLR 0.45
- MetaSVM 0.03
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (not provided)
- UniProt: Likely pathogenic (in NEDLIB)
- Cited in: AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. (PMID 31300657)