R30Q (p.Arg30Gln) variant of GNA11 (P29992)
R30Q (p.Arg30Gln) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- gnomAD 19-3094740-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.28
- CADD 23.30
- PolyPhen-2 0.06
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available