R42H (p.Arg42His) variant of GNAS (P63092)
R42H (p.Arg42His) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R42H (p.Arg42His) variant details
- p.Arg42His
- rs1057520715
- ClinGen CA16608477
- ClinVar RCV000429080
- Ensembl rs1057520715
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.57
- CADD 20.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available