L16F (p.Leu16Phe) variant of RELN (Reelin)
L16F (p.Leu16Phe) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The record also includes variant effect predictions and population frequency data.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- rs1563128080
- ClinGen CA368931572
- ClinVar RCV002466992
- ClinVar RCV003331371
- Uncertain significance
- not specified; not provided
- Missense
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)