H11Y (p.His11Tyr) variant of RAI1 (Retinoic acid-induced protein 1)
H11Y (p.His11Tyr) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
H11Y (p.His11Tyr) variant details
- p.His11Tyr
- rs2143001441
- ClinGen CA398544601
- ClinVar RCV002010373
- Ensembl rs2143001441
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available