D42H (p.Asp42His) variant of POLE (Q07864)
D42H (p.Asp42His) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
D42H (p.Asp42His) variant details
- p.Asp42His
- Ensembl rs2136034354
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available