I93L (p.Ile93Leu) variant of GNA13 (Q14344)
I93L (p.Ile93Leu) in GNA13 (Q14344) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
I93L (p.Ile93Leu) variant details
- p.Ile93Leu
- rs1489167591
- ClinGen CA400663187
- ClinVar RCV004395423
- gnomAD rs1489167591
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.25
- MetaLR 0.46
- MetaSVM -0.60
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.67
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)