K42N (p.Lys42Asn) variant of NTHL1 (Endonuclease III-like protein 1)
K42N (p.Lys42Asn) 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 not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K42N (p.Lys42Asn) variant details
- p.Lys42Asn
- rs1015408170
- ClinGen CA276765721
- ClinVar RCV000803402
- ClinVar RCV002388499
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 15.80
- PolyPhen-2 0.06
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)