C23R (p.Cys23Arg) variant of AGTRAP (Q6RW13)
C23R (p.Cys23Arg) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
C23R (p.Cys23Arg) variant details
- p.Cys23Arg
- rs17875987
- gnomAD 1-11744533-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.01
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 1.12
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available