I88M (p.Ile88Met) variant of GNA13 (Q14344)
I88M (p.Ile88Met) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
I88M (p.Ile88Met) variant details
- p.Ile88Met
- gnomAD rs1184024197
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.70
- MetaLR 0.82
- MetaSVM 0.62
- CADD 25.10
- PolyPhen-2 0.49
- SIFT 0.21
- Most common in the East Asian population (allele frequency 2.5e-05)