E35K (p.Glu35Lys) variant of NTHL1 (Endonuclease III-like protein 1)
E35K (p.Glu35Lys) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- rs747272786
- ClinGen CA394298270
- ClinVar RCV001972336
- ClinVar RCV004641816
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)