R8L (p.Arg8Leu) variant of GNA13 (Q14344)
R8L (p.Arg8Leu) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- gnomAD rs1450100547
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.54
- MetaLR 0.54
- MetaSVM -0.08
- CADD 24.40
- PolyPhen-2 0.29
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available