R48M (p.Arg48Met) variant of AGTRAP (Q6RW13)
R48M (p.Arg48Met) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R48M (p.Arg48Met) variant details
- p.Arg48Met
- gnomAD 1-11746213-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.03
- ESM-1b 1.00
- AlphaMissense 0.54
- CADD 0.01
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available