R7T (p.Arg7Thr) variant of NTHL1 (Endonuclease III-like protein 1)
R7T (p.Arg7Thr) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R7T (p.Arg7Thr) variant details
- p.Arg7Thr
- rs2084528877
- ClinGen CA2201989455
- ClinVar RCV001338554
- ClinVar RCV002329308
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 20.70
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)