D49Y (p.Asp49Tyr) variant of AGTRAP (Q6RW13)
D49Y (p.Asp49Tyr) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
D49Y (p.Asp49Tyr) variant details
- p.Asp49Tyr
- ExAC rs747983763
- gnomAD rs747983763
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.54
- MetaLR 0.15
- MetaSVM -0.85
- CADD 26.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available