I7S (p.Ile7Ser) variant of KCNJ11 (Q14654)
I7S (p.Ile7Ser) in KCNJ11 (Q14654) 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 and structural context.
I7S (p.Ile7Ser) variant details
- p.Ile7Ser
- gnomAD rs1390974211
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.59
- CADD 28.70
- PolyPhen-2 0.65
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available