I51F (p.Ile51Phe) variant of AGTRAP (Q6RW13)
I51F (p.Ile51Phe) in AGTRAP (Q6RW13) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I51F (p.Ile51Phe) variant details
- p.Ile51Phe
- rs770017595
- ClinGen CA594466
- ClinVar RCV004290046
- ExAC rs770017595
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.13
- ESM-1b 0.54
- AlphaMissense 0.20
- MetaLR 0.14
- MetaSVM -0.75
- CADD 10.80
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available