E138K (p.Glu138Lys) variant of GNA13 (Q14344)
E138K (p.Glu138Lys) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and published literature.
E138K (p.Glu138Lys) variant details
- p.Glu138Lys
- gnomAD 17-65053600-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.69
- MetaLR 0.85
- MetaSVM 0.04
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available