R28L (p.Arg28Leu) variant of GNAT1 (P11488)
R28L (p.Arg28Leu) in GNAT1 (P11488) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- rs149936603
- ClinGen CA352908988
- ClinVar RCV003713247
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.19
- MetaLR 0.45
- MetaSVM -0.04
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available