R78G (p.Arg78Gly) variant of AGTRAP (Q6RW13)
R78G (p.Arg78Gly) 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 0.12 / 1. The record also includes population frequency data and structural context.
R78G (p.Arg78Gly) variant details
- p.Arg78Gly
- rs377758973
- ClinGen CA17967937
- ClinVar RCV004387290
- ESP rs377758973
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.06
- MetaSVM -1.05
- CADD 4.50
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available