R48Q (p.Arg48Gln) variant of AGTRAP (Q6RW13)
R48Q (p.Arg48Gln) 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 0.32 / 1. The record also includes population frequency data and structural context.
R48Q (p.Arg48Gln) variant details
- p.Arg48Gln
- rs146377549
- cosmic curated COSV58668
- ESP rs146377549
- ExAC rs146377549
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.15
- ESM-1b 0.96
- AlphaMissense 0.11
- MetaLR 0.14
- MetaSVM -0.96
- CADD 22.90
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available