R57P (p.Arg57Pro) variant of IKBKB (O14920)
R57P (p.Arg57Pro) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R57P (p.Arg57Pro) variant details
- p.Arg57Pro
- gnomAD 8-42288698-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.72
- MetaLR 0.47
- MetaSVM 0.07
- CADD 29.30
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available