R25W (p.Arg25Trp) variant of NTHL1 (Endonuclease III-like protein 1)
R25W (p.Arg25Trp) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- rs369039003
- ClinGen CA394298379
- ClinVar RCV000810751
- ClinVar RCV002381801
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 14.60
- PolyPhen-2 0.13
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign (in dbSNP:rs2302172)
- UniProt: Likely benign (in dbSNP:rs2302172)
- 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)