D49N (p.Asp49Asn) variant of RELN (Reelin)
D49N (p.Asp49Asn) in RELN (Reelin) is a missense change. The record also includes variant effect predictions and population frequency data.
D49N (p.Asp49Asn) variant details
- p.Asp49Asn
- ExAC rs745472493
- gnomAD rs745472493
- Missense
- REVEL 0.13
- MetaLR 0.05
- MetaSVM -1.02
- CADD 24.60
- PolyPhen-2 0.48
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 9e-07)