L50F (p.Leu50Phe) variant of IKBKB (O14920)
L50F (p.Leu50Phe) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- ExAC rs770750173
- TOPMed rs770750173
- gnomAD rs770750173
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.25
- CADD 25.30
- PolyPhen-2 0.89
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available