S4T (p.Ser4Thr) variant of IKBKB (O14920)
S4T (p.Ser4Thr) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S4T (p.Ser4Thr) variant details
- p.Ser4Thr
- gnomAD 8-42272110-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.10
- MetaLR 0.20
- MetaSVM -0.87
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available