R43Q (p.Arg43Gln) variant of KCNJ3 (P48549)
R43Q (p.Arg43Gln) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- gnomAD 2-154698903-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.36
- CADD 24.70
- PolyPhen-2 0.12
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available