T60A (p.Thr60Ala) variant of CEBPA (P49715)
T60A (p.Thr60Ala) in CEBPA (P49715) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T60A (p.Thr60Ala) variant details
- p.Thr60Ala
- gnomAD rs1060502120
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.07
- AlphaMissense 0.43
- MetaLR 0.06
- MetaSVM -1.06
- CADD 22.80
- PolyPhen-2 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available