H70Y (p.His70Tyr) variant of IKBKB (O14920)
H70Y (p.His70Tyr) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
H70Y (p.His70Tyr) variant details
- p.His70Tyr
- gnomAD rs1277286371
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.83
- CADD 24.90
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available