I30V (p.Ile30Val) variant of IKBKB (O14920)
I30V (p.Ile30Val) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I30V (p.Ile30Val) variant details
- p.Ile30Val
- TOPMed rs1255966361
- gnomAD rs1255966361
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.04
- CADD 20.70
- PolyPhen-2 0.04
- SIFT 0.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available