V55L (p.Val55Leu) variant of RELN (Reelin)
V55L (p.Val55Leu) in RELN (Reelin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
V55L (p.Val55Leu) variant details
- p.Val55Leu
- rs753619762
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- ExAC rs753619762
- Uncertain significance
- Missense
- REVEL 0.33
- MetaLR 0.10
- MetaSVM -0.97
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)