A19V (p.Ala19Val) variant of GRIA1 (Glutamate receptor 1)
A19V (p.Ala19Val) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- gnomAD rs1335140610
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -1.03
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the HGDP:MBUTI population (allele frequency 0.29)
- Structural context available