A14V (p.Ala14Val) variant of RELN (Reelin)
A14V (p.Ala14Val) 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.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- TOPMed rs1224049310
- gnomAD rs1224049310
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.02
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)