F44L (p.Phe44Leu) variant of GRIA1 (Glutamate receptor 1)
F44L (p.Phe44Leu) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F44L (p.Phe44Leu) variant details
- p.Phe44Leu
- ESP rs140887009
- ExAC rs140887009
- gnomAD rs140887009
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.37
- MetaLR 0.57
- MetaSVM 0.01
- CADD 24.30
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the HGDP:YORUBA population (allele frequency 0.026)
- Structural context available