R28P (p.Arg28Pro) variant of GNAT1 (P11488)
R28P (p.Arg28Pro) in GNAT1 (P11488) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R28P (p.Arg28Pro) variant details
- p.Arg28Pro
- 1000Genomes rs149936603
- ESP rs149936603
- ExAC rs149936603
- TOPMed rs149936603
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.73
- AlphaMissense 0.19
- MetaLR 0.45
- MetaSVM -0.04
- CADD 28.50
- PolyPhen-2 0.99
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available