Q36E (p.Gln36Glu) variant of KCNJ3 (P48549)
Q36E (p.Gln36Glu) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q36E (p.Gln36Glu) variant details
- p.Gln36Glu
- gnomAD 2-154698881-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.27
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available