M8V (p.Met8Val) variant of NTHL1 (Endonuclease III-like protein 1)
M8V (p.Met8Val) 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; not provided. The record also includes variant effect predictions and structural context.
M8V (p.Met8Val) variant details
- p.Met8Val
- rs1596228289
- ClinGen CA394298614
- ClinVar RCV001974043
- 1000Genomes rs1596228289
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- MutPred 0.39
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available