P82L (p.Pro82Leu) variant of CEBPE (Q15744)
P82L (p.Pro82Leu) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Specific granule deficiency; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P82L (p.Pro82Leu) variant details
- p.Pro82Leu
- rs372292172
- ClinGen CA7111252
- ClinVar RCV001918903
- ClinVar RCV004611986
- Uncertain significance
- Specific granule deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.06
- MetaSVM -1.08
- CADD 12.30
- ClinVar: Uncertain significance (Specific granule deficiency; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.06)
- 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)