R48I (p.Arg48Ile) variant of AGTRAP (Q6RW13)
R48I (p.Arg48Ile) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R48I (p.Arg48Ile) variant details
- p.Arg48Ile
- rs1218320944
- gnomAD 1-11744555-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.02
- ESM-1b 1.00
- AlphaMissense 0.52
- CADD 13.90
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available