N59K (p.Asn59Lys) variant of FOS (Protein c-Fos)
N59K (p.Asn59Lys) in FOS (Protein c-Fos) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
N59K (p.Asn59Lys) variant details
- p.Asn59Lys
- TOPMed rs1897206777
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.05
- MetaLR 0.08
- MetaSVM -1.05
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)