C23F (p.Cys23Phe) variant of AGTRAP (Q6RW13)
C23F (p.Cys23Phe) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
C23F (p.Cys23Phe) variant details
- p.Cys23Phe
- ExAC rs774325451
- TOPMed rs774325451
- gnomAD rs774325451
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.42
- MetaLR 0.13
- MetaSVM -0.90
- CADD 22.40
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available