P46S (p.Pro46Ser) variant of NTHL1 (Endonuclease III-like protein 1)
P46S (p.Pro46Ser) 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 not provided; Familial adenomatous polyposis 3. The record also includes published literature and structural context.
P46S (p.Pro46Ser) variant details
- p.Pro46Ser
- rs2150947586
- ClinGen CA394298024
- NCI-TCGA Cosmic COSV9952
- ClinVar RCV001756795
- Uncertain significance
- not provided; Familial adenomatous polyposis 3
- Missense
- ClinVar: Uncertain significance (not provided; Familial adenomatous polyposis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: NTHL1 Tumor Syndrome. (PMID 32239880)