N57K (p.Asn57Lys) variant of SLC2A2 (P11168)
N57K (p.Asn57Lys) in SLC2A2 (P11168) 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 0.29 / 1. The record also includes population frequency data and structural context.
N57K (p.Asn57Lys) variant details
- p.Asn57Lys
- Ensembl rs1716051069
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.34
- CADD 12.60
- PolyPhen-2 0.10
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available