D48E (p.Asp48Glu) variant of FOS (Protein c-Fos)
D48E (p.Asp48Glu) in FOS (Protein c-Fos) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D48E (p.Asp48Glu) variant details
- p.Asp48Glu
- gnomAD rs1169737592
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.03
- MetaLR 0.08
- MetaSVM -1.06
- CADD 18.20
- PolyPhen-2 0.05
- SIFT 0.35
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available