S12R (p.Ser12Arg) variant of GNA11 (P29992)
S12R (p.Ser12Arg) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- gnomAD 19-3094687-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.70
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available