L49F (p.Leu49Phe) variant of GRIA1 (Glutamate receptor 1)
L49F (p.Leu49Phe) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L49F (p.Leu49Phe) variant details
- p.Leu49Phe
- Ensembl rs1754177699
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.16
- MetaLR 0.38
- MetaSVM -0.42
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available