R37P (p.Arg37Pro) variant of POLE (Q07864)
R37P (p.Arg37Pro) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 41. The record also includes structural context.
R37P (p.Arg37Pro) variant details
- p.Arg37Pro
- ESP rs377002290
- ExAC rs377002290
- TOPMed rs377002290
- gnomAD rs377002290
- Pathogenic
- Autosomal dominant nonsyndromic hearing loss 41
- Missense
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 41)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available