Q42del (p.Gln42del) variant of KCNJ2 (P63252)
Q42del (p.Gln42del) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Q42del (p.Gln42del) variant details
- rs1567822866
- gnomAD 17-70175158-GACA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 17.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available