T2N (p.Thr2Asn) variant of NTHL1 (Endonuclease III-like protein 1)
T2N (p.Thr2Asn) 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 Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
T2N (p.Thr2Asn) variant details
- p.Thr2Asn
- rs1305523200
- ClinGen CA394298708
- ClinVar RCV003714336
- ClinVar RCV005445912
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0725
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- 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)