N43K (p.Asn43Lys) variant of MUTYH (Adenine DNA glycosylase)
N43K (p.Asn43Lys) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes population frequency data and structural context.
N43K (p.Asn43Lys) variant details
- p.Asn43Lys
- ESP rs141679570
- ExAC rs141679570
- TOPMed rs141679570
- gnomAD rs141679570
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available