E35Q (p.Glu35Gln) variant of NTHL1 (Endonuclease III-like protein 1)
E35Q (p.Glu35Gln) 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 not provided; Familial adenomatous polyposis 3; Hereditary cancer-predisposing s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E35Q (p.Glu35Gln) variant details
- p.Glu35Gln
- rs747272786
- ClinGen CA027431
- ClinVar RCV000807595
- ClinVar RCV001010720
- Conflicting interpretations
- not provided; Familial adenomatous polyposis 3; Hereditary cancer-predisposing s
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 15.40
- PolyPhen-2 0.18
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial adenomatous polyposis 3; Hereditary cance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00024)
- 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)