P15S (p.Pro15Ser) variant of CEBPB (P17676)
P15S (p.Pro15Ser) in CEBPB (P17676) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- rs2081572025
- ClinGen CA408947342
- ClinVar RCV004431198
- Ensembl rs2081572025
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.04
- CADD 21.10
- PolyPhen-2 0.64
- SIFT 0.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available