A4V (p.Ala4Val) variant of CEBPA (P49715)
A4V (p.Ala4Val) in CEBPA (P49715) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- Ensembl rs867268085
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.14
- MetaLR 0.06
- MetaSVM -1.08
- CADD 25.30
- PolyPhen-2 0.06
- SIFT 0.04
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available