P82S (p.Pro82Ser) variant of CEBPE (Q15744)
P82S (p.Pro82Ser) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P82S (p.Pro82Ser) variant details
- p.Pro82Ser
- rs745802559
- ClinGen CA7111253
- ClinVar RCV002640898
- ExAC rs745802559
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.05
- MetaSVM -1.08
- CADD 12.50
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.023)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)