T77I (p.Thr77Ile) variant of RELN (Reelin)
T77I (p.Thr77Ile) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
T77I (p.Thr77Ile) variant details
- p.Thr77Ile
- rs150587706
- ClinGen CA4422647
- ClinVar RCV001727419
- ESP rs150587706
- Uncertain significance
- not provided
- Missense
- REVEL 0.38
- MetaLR 0.12
- MetaSVM -0.98
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)