D52E (p.Asp52Glu) variant of AGTRAP (Q6RW13)
D52E (p.Asp52Glu) in AGTRAP (Q6RW13) is a missense change. 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.
D52E (p.Asp52Glu) variant details
- p.Asp52Glu
- TOPMed rs1455779937
- gnomAD rs1455779937
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.56
- MetaLR 0.09
- MetaSVM -0.96
- CADD 19.90
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available