R25K (p.Arg25Lys) variant of NTHL1 (Endonuclease III-like protein 1)
R25K (p.Arg25Lys) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R25K (p.Arg25Lys) variant details
- p.Arg25Lys
- rs2302172
- ClinGen CA027945
- ClinVar RCV000879706
- ClinVar RCV001019876
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 7.62
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Likely benign (in dbSNP:rs2302172)
- UniProt: Likely benign (in dbSNP:rs2302172)
- Most common in the 1KG:JPT population (allele frequency 0.025)
- 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)