P18R (p.Pro18Arg) variant of CEBPB (P17676)
P18R (p.Pro18Arg) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- gnomAD 20-50191086-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.07
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available