K17E (p.Lys17Glu) variant of GNAI1 (P63096)
K17E (p.Lys17Glu) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
K17E (p.Lys17Glu) variant details
- p.Lys17Glu
- TOPMed rs1787387719
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 23.80
- PolyPhen-2 0.29
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available