G22D (p.Gly22Asp) variant of AGTRAP (Q6RW13)
G22D (p.Gly22Asp) 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 0.48 / 1. The record also includes population frequency data and structural context.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- ESP rs141555536
- ExAC rs141555536
- TOPMed rs141555536
- gnomAD rs141555536
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.27
- MetaSVM -0.54
- CADD 24.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00019)
- Structural context available