G52R (p.Gly52Arg) variant of GNAS (P63092)
G52R (p.Gly52Arg) in GNAS (P63092) 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 0.80 / 1. The record also includes structural context.
G52R (p.Gly52Arg) variant details
- p.Gly52Arg
- rs2146005656
- ClinGen CA409449586
- ClinVar RCV002938937
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available