Q28R (p.Gln28Arg) variant of KCNJ5 (P48544)
Q28R (p.Gln28Arg) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q28R (p.Gln28Arg) variant details
- p.Gln28Arg
- gnomAD 11-128911356-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.38
- MetaLR 0.61
- MetaSVM 0.00
- CADD 17.50
- PolyPhen-2 0.15
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available