A6V (p.Ala6Val) variant of GRIA1 (Glutamate receptor 1)
A6V (p.Ala6Val) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD 5-153490905-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.17
- MetaLR 0.01
- MetaSVM -0.98
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.83
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available
- Literature evidence available