P6L (p.Pro6Leu) variant of GNA13 (Q14344)
P6L (p.Pro6Leu) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- TOPMed rs1281059572
- gnomAD rs1281059572
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.54
- MetaLR 0.51
- MetaSVM 0.15
- CADD 23.60
- PolyPhen-2 0.29
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available