C23Y (p.Cys23Tyr) variant of AGTRAP (Q6RW13)
C23Y (p.Cys23Tyr) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
C23Y (p.Cys23Tyr) variant details
- p.Cys23Tyr
- ExAC rs774325451
- TOPMed rs774325451
- gnomAD rs774325451
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.23
- MetaSVM -0.60
- CADD 23.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available