C23W (p.Cys23Trp) variant of AGTRAP (Q6RW13)
C23W (p.Cys23Trp) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
C23W (p.Cys23Trp) variant details
- p.Cys23Trp
- rs1236513279
- gnomAD 1-11746127-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.73
- CADD 11.00
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available