P21R (p.Pro21Arg) variant of NTHL1 (Endonuclease III-like protein 1)
P21R (p.Pro21Arg) 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 not provided; Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions, published literature, and structural context.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- rs753200685
- ClinGen CA394298436
- ClinVar RCV001939838
- ClinVar RCV004945786
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.16
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)