R7S (p.Arg7Ser) variant of NTHL1 (Endonuclease III-like protein 1)
R7S (p.Arg7Ser) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial adenomatous polyposis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- rs762030002
- ClinGen CA394298616
- ClinVar RCV001208008
- ClinVar RCV002256698
- Pathogenic/Likely pathogenic
- Familial adenomatous polyposis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Familial adenomatous polyposis 3)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)