I51M (p.Ile51Met) variant of GNA13 (Q14344)
I51M (p.Ile51Met) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
I51M (p.Ile51Met) variant details
- p.Ile51Met
- ExAC rs767330120
- gnomAD rs767330120
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.53
- MetaLR 0.67
- MetaSVM 0.29
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available