E73K (p.Glu73Lys) variant of RELN (Reelin)
E73K (p.Glu73Lys) in RELN (Reelin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
E73K (p.Glu73Lys) variant details
- p.Glu73Lys
- NCI-TCGA Cosmic COSV1006
- NCI-TCGA Cosmic COSV5901
- cosmic curated COSV59017
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.34
- MetaLR 0.07
- MetaSVM -0.98
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)