S5N (p.Ser5Asn) variant of NTHL1 (Endonuclease III-like protein 1)
S5N (p.Ser5Asn) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- rs750166500
- ClinGen CA027717
- ClinVar RCV001056296
- ClinVar RCV002365712
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.08
- 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 2.6e-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)