A40S (p.Ala40Ser) variant of NTHL1 (Endonuclease III-like protein 1)
A40S (p.Ala40Ser) 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 and structural context.
A40S (p.Ala40Ser) variant details
- p.Ala40Ser
- rs2084387662
- ClinGen CA394298103
- ClinVar RCV001202275
- Ensembl rs2084387662
- Uncertain significance
- not provided
- Missense
- MutPred 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available