M24L (p.Met24Leu) variant of CEBPB (P17676)
M24L (p.Met24Leu) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
M24L (p.Met24Leu) variant details
- p.Met24Leu
- gnomAD 20-50191103-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.32
- CADD 26.30
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available