S14G (p.Ser14Gly) variant of NTHL1 (Endonuclease III-like protein 1)
S14G (p.Ser14Gly) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S14G (p.Ser14Gly) variant details
- p.Ser14Gly
- rs1596228177
- ClinGen CA394298548
- ClinVar RCV001025341
- ClinVar RCV005093260
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 21.90
- PolyPhen-2 0.14
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.2e-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)