H44Y (p.His44Tyr) variant of NTHL1 (Endonuclease III-like protein 1)
H44Y (p.His44Tyr) 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 not provided; Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions, published literature, and structural context.
H44Y (p.His44Tyr) variant details
- p.His44Tyr
- rs374988261
- ClinGen CA394298050
- ClinVar RCV001344144
- ClinVar RCV005385052
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.19
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)