M8T (p.Met8Thr) variant of NTHL1 (Endonuclease III-like protein 1)
M8T (p.Met8Thr) 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; not provided. The record also includes variant effect predictions, published literature, and structural context.
M8T (p.Met8Thr) variant details
- p.Met8Thr
- rs376966505
- ClinGen CA394298607
- ClinVar RCV002716209
- ClinVar RCV005685012
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- MutPred 0.39
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)