S251R (p.Ser251Arg) variant of GNAS (P63092)
S251R (p.Ser251Arg) 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 0.86 / 1. The record also includes published literature and structural context.
S251R (p.Ser251Arg) variant details
- p.Ser251Arg
- rs1272546759
- ClinGen CA409452512
- ClinVar RCV000754872
- ClinVar RCV005092169
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)