A30V (p.Ala30Val) variant of CEBPA (P49715)
A30V (p.Ala30Val) in CEBPA (P49715) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD rs1366483522
- Uncertain significance
- Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -0.91
- CADD 25.00
- PolyPhen-2 0.97
- SIFT 0.14
- ClinVar: Uncertain significance (Acute myeloid leukemia)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available