H44D (p.His44Asp) variant of NTHL1 (Endonuclease III-like protein 1)
H44D (p.His44Asp) 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 specified; not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H44D (p.His44Asp) variant details
- p.His44Asp
- rs374988261
- ClinGen CA276765719
- ClinVar RCV001012077
- ClinVar RCV001040110
- Conflicting interpretations
- not specified; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 8.04
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Hereditary cancer-predisposing synd)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: NTHL1 Tumor Syndrome. (PMID 32239880)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)