A38T (p.Ala38Thr) variant of NTHL1 (Endonuclease III-like protein 1)
A38T (p.Ala38Thr) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- Ensembl rs2150957299
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 16.00
- PolyPhen-2 0.28
- SIFT 0.06
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- UniProt: Likely benign
- Population evidence available
- Structural context available