H75Y (p.His75Tyr) variant of RELN (Reelin)
H75Y (p.His75Tyr) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Norman-Roberts syndrome. The record also includes variant effect predictions and population frequency data.
H75Y (p.His75Tyr) variant details
- p.His75Tyr
- rs555377051
- ClinGen CA10627845
- ClinVar RCV000262788
- 1000Genomes rs555377051
- Uncertain significance
- Norman-Roberts syndrome
- Missense
- AlphaMissense 0.10
- MetaLR 0.03
- MetaSVM -0.99
- PolyPhen-2 0.39
- SIFT 0.03
- EVE 0.11
- ClinVar: Uncertain significance (Norman-Roberts syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available