E73Q (p.Glu73Gln) variant of RELN (Reelin)
E73Q (p.Glu73Gln) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Norman-Roberts syndrome. The record also includes variant effect predictions and population frequency data.
E73Q (p.Glu73Gln) variant details
- p.Glu73Gln
- Ensembl rs1382025988
- Uncertain significance
- Norman-Roberts syndrome
- Missense
- REVEL 0.32
- MetaLR 0.11
- MetaSVM -1.03
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Uncertain significance (Norman-Roberts syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)