C24W (p.Cys24Trp) variant of NTHL1 (Endonuclease III-like protein 1)
C24W (p.Cys24Trp) in NTHL1 (Endonuclease III-like protein 1) 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 structural context.
C24W (p.Cys24Trp) variant details
- p.Cys24Trp
- TOPMed rs1265227121
- gnomAD rs1265227121
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available