M1V (p.Met1Val) variant of NTHL1 (Endonuclease III-like protein 1)
M1V (p.Met1Val) 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.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1277993259
- ClinGen CA394298744
- ClinVar RCV001227472
- ClinVar RCV004944910
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.27
- 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)