P17L (p.Pro17Leu) variant of CEBPB (P17676)
P17L (p.Pro17Leu) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- gnomAD rs1326067176
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.06
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available