R32H (p.Arg32His) variant of RELN (Reelin)
R32H (p.Arg32His) in RELN (Reelin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions.
R32H (p.Arg32His) variant details
- p.Arg32His
- cosmic curated COSV58995
- gnomAD rs1270595402
- Uncertain significance
- Inborn genetic diseases
- Missense
- MetaLR 0.07
- MetaSVM -1.02
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance