A38G (p.Ala38Gly) variant of NTHL1 (Endonuclease III-like protein 1)
A38G (p.Ala38Gly) 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. The record also includes variant effect predictions, population frequency data, and structural context.
A38G (p.Ala38Gly) variant details
- p.Ala38Gly
- rs202082304
- ClinGen CA394298220
- ClinVar RCV001343324
- 1000Genomes rs202082304
- Uncertain significance
- not provided
- Missense
- MutPred 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available