T10S (p.Thr10Ser) variant of NTHL1 (Endonuclease III-like protein 1)
T10S (p.Thr10Ser) 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 Familial adenomatous polyposis 3; Hereditary cancer-predisposing syndrome; not s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
T10S (p.Thr10Ser) variant details
- p.Thr10Ser
- Ensembl rs2150958551
- Conflicting interpretations
- Familial adenomatous polyposis 3; Hereditary cancer-predisposing syndrome; not s
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 22.30
- PolyPhen-2 0.58
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Familial adenomatous polyposis 3; Hereditary cancer-predisposing)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available