R25G (p.Arg25Gly) variant of NTHL1 (Endonuclease III-like protein 1)
R25G (p.Arg25Gly) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- rs369039003
- ClinGen CA027938
- ClinVar RCV001900476
- ClinVar RCV002370417
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 2.44
- PolyPhen-2 0.00
- SIFT 0.99
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign (in dbSNP:rs2302172)
- UniProt: Likely benign (in dbSNP:rs2302172)
- 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)