S5T (p.Ser5Thr) variant of NTHL1 (Endonuclease III-like protein 1)
S5T (p.Ser5Thr) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- rs750166500
- ClinGen CA394298652
- ClinVar RCV000807679
- ClinVar RCV002257974
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 7.98
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)