P35S (p.Pro35Ser) variant of RELN (Reelin)
P35S (p.Pro35Ser) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions, population frequency data, and published literature.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- rs2116860248
- ClinGen CA2573141417
- ClinVar RCV001948119
- Ensembl rs2116860248
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.37
- MetaLR 0.14
- MetaSVM -0.84
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)