E35D (p.Glu35Asp) variant of NTHL1 (Endonuclease III-like protein 1)
E35D (p.Glu35Asp) 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; not provided; Hereditary cancer-predisposing s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
E35D (p.Glu35Asp) variant details
- p.Glu35Asp
- rs1596227700
- ClinGen CA394298259
- ClinVar RCV000806754
- ClinVar RCV003325217
- Conflicting interpretations
- Familial adenomatous polyposis 3; not provided; Hereditary cancer-predisposing s
- Missense
- Variant Prioritization Score for Impact Estimate 0.0739
- CADD 2.67
- PolyPhen-2 0.12
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Familial adenomatous polyposis 3; not provided; Hereditary cance)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)