G25R (p.Gly25Arg) variant of IKBKB (O14920)
G25R (p.Gly25Arg) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- gnomAD 8-42272173-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.46
- MetaLR 0.30
- MetaSVM -0.41
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.11
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available