P50S (p.Pro50Ser) variant of NTHL1 (Endonuclease III-like protein 1)
P50S (p.Pro50Ser) 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.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- rs2150947428
- ClinGen CA394297964
- ClinVar RCV002399169
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MutPred 0.21
- 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)