T66A (p.Thr66Ala) variant of RELN (Reelin)
T66A (p.Thr66Ala) 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; Norman-Roberts syndrome; Familial temporal lobe epileps. The record also includes variant effect predictions, population frequency data, and published literature.
T66A (p.Thr66Ala) variant details
- p.Thr66Ala
- rs751673305
- ClinGen CA164084380
- ClinVar RCV001987688
- ClinVar RCV005473043
- Uncertain significance
- Inborn genetic diseases; Norman-Roberts syndrome; Familial temporal lobe epileps
- Missense
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.04
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases; Norman-Roberts syndrome; Familial tempo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-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)