C24R (p.Cys24Arg) variant of NTHL1 (Endonuclease III-like protein 1)
C24R (p.Cys24Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
C24R (p.Cys24Arg) variant details
- p.Cys24Arg
- rs1596227962
- ClinGen CA394298401
- ClinVar RCV002374146
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0896
- CADD 2.81
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)