R48K (p.Arg48Lys) variant of AGTRAP (Q6RW13)
R48K (p.Arg48Lys) 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.
R48K (p.Arg48Lys) variant details
- p.Arg48Lys
- gnomAD 1-11744555-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.02
- ESM-1b 0.09
- AlphaMissense 0.12
- CADD 10.10
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available