E27K (p.Glu27Lys) variant of NTHL1 (Endonuclease III-like protein 1)
E27K (p.Glu27Lys) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- rs2084517936
- ClinGen CA394298346
- ClinVar RCV002389650
- ClinVar RCV003095230
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)