L20R (p.Leu20Arg) variant of GNA13 (Q14344)
L20R (p.Leu20Arg) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
L20R (p.Leu20Arg) variant details
- p.Leu20Arg
- TOPMed rs1397367984
- gnomAD rs1397367984
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.63
- MetaLR 0.69
- MetaSVM 0.45
- CADD 24.80
- SIFT 0.19
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)