P4R (p.Pro4Arg) variant of AGTRAP (Q6RW13)
P4R (p.Pro4Arg) in AGTRAP (Q6RW13) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P4R (p.Pro4Arg) variant details
- p.Pro4Arg
- rs764597773
- ClinGen CA17962899
- ClinVar RCV004193763
- TOPMed rs764597773
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.28
- ESM-1b 0.03
- AlphaMissense 0.36
- MetaLR 0.24
- MetaSVM -0.51
- CADD 29.60
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available