A7S (p.Ala7Ser) variant of RELN (Reelin)
A7S (p.Ala7Ser) 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 and population frequency data.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- ExAC rs750179737
- TOPMed rs750179737
- gnomAD rs750179737
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.06
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-05)