I11F (p.Ile11Phe) variant of AGTRAP (Q6RW13)
I11F (p.Ile11Phe) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
I11F (p.Ile11Phe) variant details
- p.Ile11Phe
- ESP rs149566941
- TOPMed rs149566941
- gnomAD rs149566941
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.45
- ESM-1b 0.05
- AlphaMissense 0.34
- MetaLR 0.34
- MetaSVM -0.32
- CADD 27.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available