A3P (p.Ala3Pro) variant of NTHL1 (Endonuclease III-like protein 1)
A3P (p.Ala3Pro) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions, published literature, and structural context.
A3P (p.Ala3Pro) variant details
- p.Ala3Pro
- rs753350404
- ClinGen CA394298701
- ClinVar RCV001363843
- ClinVar RCV002322335
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.18
- ClinVar: Likely benign (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)