V98A (p.Val98Ala) variant of RELN (Reelin)
V98A (p.Val98Ala) 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; Familial temporal lobe epilepsy 7; Norman-Roberts syndr. The record also includes variant effect predictions, population frequency data, and published literature.
V98A (p.Val98Ala) variant details
- p.Val98Ala
- rs1471699014
- ClinGen CA368931053
- ClinVar RCV000762476
- ClinVar RCV001855955
- Uncertain significance
- Inborn genetic diseases; Familial temporal lobe epilepsy 7; Norman-Roberts syndr
- Missense
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -0.98
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases; Familial temporal lobe epilepsy 7; Norm)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)