V74M (p.Val74Met) variant of IKBKB (O14920)
V74M (p.Val74Met) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V74M (p.Val74Met) variant details
- p.Val74Met
- ExAC rs775274100
- gnomAD rs775274100
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.60
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available