Q56R (p.Gln56Arg) variant of KCNJ3 (P48549)
Q56R (p.Gln56Arg) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q56R (p.Gln56Arg) variant details
- p.Gln56Arg
- gnomAD 2-154698942-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.64
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available