K121E (p.Lys121Glu) variant of GNA13 (Q14344)
K121E (p.Lys121Glu) in GNA13 (Q14344) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
K121E (p.Lys121Glu) variant details
- p.Lys121Glu
- gnomAD 17-65053651-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.18
- MetaLR 0.43
- MetaSVM -0.31
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available