I51V (p.Ile51Val) variant of AGTRAP (Q6RW13)
I51V (p.Ile51Val) in AGTRAP (Q6RW13) 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 0.08 / 1. The record also includes population frequency data and structural context.
I51V (p.Ile51Val) variant details
- p.Ile51Val
- ExAC rs770017595
- TOPMed rs770017595
- gnomAD rs770017595
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0765
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.04
- MetaSVM -0.94
- CADD 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available