L4V (p.Leu4Val) variant of NTHL1 (Endonuclease III-like protein 1)
L4V (p.Leu4Val) 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 structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- rs2548332651
- ClinGen CA394298674
- ClinVar RCV003704375
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available