G71R (p.Gly71Arg) variant of RELN (Reelin)
G71R (p.Gly71Arg) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial temporal lobe epilepsy 7; Norman-Roberts syndrome; Inborn genetic disea. The record also includes variant effect predictions, population frequency data, and published literature.
G71R (p.Gly71Arg) variant details
- p.Gly71Arg
- rs976170143
- ClinGen CA164084366
- ClinVar RCV002741065
- ClinVar RCV005473231
- Conflicting interpretations
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome; Inborn genetic disea
- Missense
- REVEL 0.36
- MetaLR 0.19
- MetaSVM -0.74
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome; Inbo)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)