I88V (p.Ile88Val) variant of GNA13 (Q14344)
I88V (p.Ile88Val) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
I88V (p.Ile88Val) variant details
- p.Ile88Val
- TOPMed rs1463556900
- gnomAD rs1463556900
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.33
- MetaLR 0.55
- MetaSVM -0.45
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.81
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)