R30R (p.Arg30Arg) variant of GNA11 (P29992)
R30R (p.Arg30Arg) in GNA11 (P29992) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R30R (p.Arg30Arg) variant details
- p.Arg30Arg
- gnomAD 19-3094741-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.516
- AlphaMissense 1.00
- MetaLR 0.76
- MetaSVM 0.53
- CADD 15.30
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available