C24Y (p.Cys24Tyr) variant of NTHL1 (Endonuclease III-like protein 1)
C24Y (p.Cys24Tyr) 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 not provided; NTHL1-related disorder; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
C24Y (p.Cys24Tyr) variant details
- p.Cys24Tyr
- rs1034291686
- ClinGen CA276766673
- ClinVar RCV000824649
- ClinVar RCV001019545
- Conflicting interpretations
- not provided; NTHL1-related disorder; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 0.90
- PolyPhen-2 0.03
- SIFT 0.68
- ClinVar: Conflicting classifications of pathogenicity (not provided; NTHL1-related disorder; Hereditary cancer-predispo)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)