R21C (p.Arg21Cys) variant of GNAI1 (P63096)
R21C (p.Arg21Cys) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R21C (p.Arg21Cys) variant details
- p.Arg21Cys
- gnomAD 7-80135221-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- MetaLR 0.73
- MetaSVM 0.41
- CADD 29.50
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available