R67K (p.Arg67Lys) variant of CEBPE (Q15744)
R67K (p.Arg67Lys) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R67K (p.Arg67Lys) variant details
- p.Arg67Lys
- gnomAD rs1382709847
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -1.04
- CADD 17.50
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available