K54N (p.Lys54Asn) variant of GRIA1 (Glutamate receptor 1)
K54N (p.Lys54Asn) in GRIA1 (Glutamate receptor 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K54N (p.Lys54Asn) variant details
- p.Lys54Asn
- ExAC rs781593854
- gnomAD rs781593854
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.26
- MetaLR 0.49
- MetaSVM -0.32
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available