Y29C (p.Tyr29Cys) variant of RELN (Reelin)
Y29C (p.Tyr29Cys) in RELN (Reelin) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not specified; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7. The record also includes variant effect predictions and population frequency data.
Y29C (p.Tyr29Cys) variant details
- p.Tyr29Cys
- ExAC rs753710957
- gnomAD rs753710957
- Conflicting interpretations
- not specified; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.08
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; Norman-Roberts syndrome; Familial temporal lobe e)
- UniProt: Conflicting interpretations
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)