Q28L (p.Gln28Leu) variant of GNA11 (P29992)
Q28L (p.Gln28Leu) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q28L (p.Gln28Leu) variant details
- p.Gln28Leu
- gnomAD 19-3094734-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.68
- CADD 24.90
- PolyPhen-2 0.52
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available