R78W (p.Arg78Trp) variant of AGTRAP (Q6RW13)
R78W (p.Arg78Trp) in AGTRAP (Q6RW13) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R78W (p.Arg78Trp) variant details
- p.Arg78Trp
- ESP rs377758973
- TOPMed rs377758973
- gnomAD rs377758973
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.00
- CADD 13.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available