S4L (p.Ser4Leu) variant of IKBKB (O14920)
S4L (p.Ser4Leu) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S4L (p.Ser4Leu) variant details
- p.Ser4Leu
- gnomAD 8-42272111-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.15
- MetaLR 0.26
- MetaSVM -0.65
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available