R48W (p.Arg48Trp) variant of AGTRAP (Q6RW13)
R48W (p.Arg48Trp) 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 0.45 / 1. The record also includes population frequency data and structural context.
R48W (p.Arg48Trp) variant details
- p.Arg48Trp
- rs200088833
- ClinGen CA594462
- ClinVar RCV004197779
- 1000Genomes rs200088833
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.32
- MetaSVM -0.37
- CADD 25.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available