T10I (p.Thr10Ile) variant of NTHL1 (Endonuclease III-like protein 1)
T10I (p.Thr10Ile) 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 Familial adenomatous polyposis 3; Hereditary cancer-predisposing syndrome; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
T10I (p.Thr10Ile) variant details
- p.Thr10Ile
- rs370539291
- ClinGen CA027763
- ClinVar RCV001933063
- ClinVar RCV002344032
- Uncertain significance
- Familial adenomatous polyposis 3; Hereditary cancer-predisposing syndrome; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 22.90
- PolyPhen-2 0.83
- SIFT 0.03
- ClinVar: Uncertain significance (Familial adenomatous polyposis 3; Hereditary cancer-predisposing)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Cited in: NTHL1 Tumor Syndrome. (PMID 32239880)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)