N33K (p.Asn33Lys) variant of GRIA1 (Glutamate receptor 1)
N33K (p.Asn33Lys) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N33K (p.Asn33Lys) variant details
- p.Asn33Lys
- gnomAD 5-153493944-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.11
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.90
- Most common in the HGDP:MBUTI population (allele frequency 0.29)
- Structural context available
- Literature evidence available