R21H (p.Arg21His) variant of GNAI1 (P63096)
R21H (p.Arg21His) in GNAI1 (P63096) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R21H (p.Arg21His) variant details
- p.Arg21His
- NCI-TCGA Cosmic COSV1006
- TOPMed rs1787387941
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 25.40
- PolyPhen-2 0.49
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available