M1I (p.Met1Ile) variant of NTHL1 (Endonuclease III-like protein 1)
M1I (p.Met1Ile) 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.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2150958900
- ClinGen CA394298719
- ClinVar RCV002036346
- ClinVar RCV005445582
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.22
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)