Q9P (p.Gln9Pro) variant of RELN (Reelin)
Q9P (p.Gln9Pro) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; not specified. The record also includes variant effect predictions, population frequency data, and published literature.
Q9P (p.Gln9Pro) variant details
- p.Gln9Pro
- rs115165703
- ClinGen CA148341
- ClinVar RCV000081229
- ClinVar RCV000264190
- Benign/Likely benign
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; not specified
- Missense
- REVEL 0.04
- MetaLR 0.00
- MetaSVM -1.05
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Benign/Likely benign (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; not)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)