E39Q (p.Glu39Gln) variant of NTHL1 (Endonuclease III-like protein 1)
E39Q (p.Glu39Gln) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- rs1274541982
- ClinGen CA394298213
- ClinVar RCV001922570
- ClinVar RCV002388792
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 36.00
- PolyPhen-2 0.83
- SIFT 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)