L63M (p.Leu63Met) variant of KCNJ11 (Q14654)
L63M (p.Leu63Met) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L63M (p.Leu63Met) variant details
- p.Leu63Met
- gnomAD rs1953590561
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.68
- CADD 23.80
- PolyPhen-2 0.76
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available