E13K (p.Glu13Lys) variant of BUB1B (O60566)
E13K (p.Glu13Lys) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- gnomAD rs1440436210
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.06
- MetaLR 0.02
- MetaSVM -1.01
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available