T64R (p.Thr64Arg) variant of AGTRAP (Q6RW13)
T64R (p.Thr64Arg) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T64R (p.Thr64Arg) variant details
- p.Thr64Arg
- rs1176415019
- gnomAD 1-11746219-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.05
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 0.64
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available