P46T (p.Pro46Thr) variant of NTHL1 (Endonuclease III-like protein 1)
P46T (p.Pro46Thr) 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. The record also includes variant effect predictions, published literature, and structural context.
P46T (p.Pro46Thr) variant details
- p.Pro46Thr
- rs2150947586
- ClinGen CA394298022
- ClinVar RCV002394810
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.19
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)