E27G (p.Glu27Gly) variant of NTHL1 (Endonuclease III-like protein 1)
E27G (p.Glu27Gly) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial adenomatous polyposis 3; Hereditary cancer-predisposing syndrome; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- rs762937286
- ClinGen CA027380
- ClinVar RCV001054038
- ClinVar RCV003160427
- Conflicting interpretations
- Familial adenomatous polyposis 3; Hereditary cancer-predisposing syndrome; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Familial adenomatous polyposis 3; Hereditary cancer-predisposing)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available
- Cited in: NTHL1 Tumor Syndrome. (PMID 32239880)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)