C24F (p.Cys24Phe) variant of NTHL1 (Endonuclease III-like protein 1)
C24F (p.Cys24Phe) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
C24F (p.Cys24Phe) variant details
- p.Cys24Phe
- rs1034291686
- ClinGen CA394298389
- ClinVar RCV001346801
- ClinVar RCV005372662
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 2.33
- PolyPhen-2 0.01
- SIFT 0.51
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)