A63V (p.Ala63Val) variant of CEBPE (Q15744)
A63V (p.Ala63Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- rs561833547
- ClinGen CA7111274
- ClinVar RCV003086778
- ExAC rs561833547
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.04
- CADD 16.60
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available