K54N (p.Lys54Asn) variant of SLC2A2 (P11168)
K54N (p.Lys54Asn) in SLC2A2 (P11168) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
K54N (p.Lys54Asn) variant details
- p.Lys54Asn
- 1000Genomes rs546539032
- ExAC rs546539032
- TOPMed rs546539032
- gnomAD rs546539032
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.14
- CADD 8.68
- PolyPhen-2 0.04
- SIFT 0.26
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available