A40G (p.Ala40Gly) variant of NTHL1 (Endonuclease III-like protein 1)
A40G (p.Ala40Gly) 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.
A40G (p.Ala40Gly) variant details
- p.Ala40Gly
- rs375615004
- ClinGen CA394298101
- ClinVar RCV004516043
- ESP rs375615004
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.27
- ClinVar: Likely benign (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)