R22L (p.Arg22Leu) variant of NTHL1 (Endonuclease III-like protein 1)
R22L (p.Arg22Leu) 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 Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- rs779612126
- ClinGen CA027877
- ClinVar RCV001969756
- ClinVar RCV003289281
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- CADD 13.40
- PolyPhen-2 0.05
- SIFT 0.17
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-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)